How Do You Treat Immersion Foot Injury?

Patient Presentation
A 17-year-old male came to clinic  because of irritated feet. He had started a summer job at a car wash and was spending long days in a humid, wet environment. He initially had used the impermeable coat, pants and boots that his employer offered, but found the coat and pants were very uncomfortable as he felt they made him hotter and wetter. Therefore he wore cotton clothing. He also wore the boots but noted that water often seeped into the boots and noted “I just have wet feet all day.” He used cotton socks and would not change them during his work day. “My feet are just wet and when I get home they are always wrinkled and white like being in the bathtub too long. In the past week or so, my feet are sorer too and it seems like it is taking longer for the skin to be normal after I get home. There are some places that are cracking and peeling a bit and even when I put the athlete’s foot lotion on that I used before. It’s not helping,” described the teenager. He complained also that his hands were becoming more reddened.

The pertinent physical exam showed normal vital signs and growth. His feet were palish, with wrinkling especially around the nail beds, and edges of the heel and ball of foot with some small cracking in those areas. There was no specific scale or erythema or obvious trauma such as a blister. His feet felt somewhat cold but there was good capillary refill and pulses were intact. His hands also showed marked dryness and mild erythema overall. His legs and arms also showed some mild dryness but less severe than his hands and feet.

The diagnosis of immersion injury was made. The teen was instructed to use layered water-wicking socks with some cushion to protect his feet in the boots. These he should change whenever he has a break. The doctor also recommended that he use the impermeable pants and make sure they go over the boots to direct the water away from the boots and feet. “I’d recommend using gloves too to protect your hands,” noted the doctor. The teen protested that other workers didn’t do this and he didn’t have time during breaks, but the doctor said, “I know it can be a problem, but the water is worse for you. Besides fisherman and other people who work outside all the time seem to be able to do it. If you don’t take care of your feet it will get worse and you won’t be able to walk and work. That won’t be great will it?,” he stated. “It’s also loud at the car wash so you should wear your ear plugs too,” the doctor noted as he left the room.

All occupations have some type of potential health consequences. Some are obvious because of the environment such as kitchen workers, first responders, helicopter pilots, etc. Others are may be less obvious or not considered such as slip and falls, cleaning supply chemical exposure, animal bites for postal and utility workers, etc. Noise and lifting objects are often overlooked problems in some settings but obvious in others such as construction. Protective measures, especially appropriate education and training and protective clothing and safety gear are obviously important for performing the work as safely as possible. Most employers want to keep their employees safe and well. Teenagers especially often do not have the experience and may also not be aware of the potential health hazards at their workplace. Parents and teens should consider all the potential occupational risks when deciding to take a job. Teens and parents can look at the US Department of Labor’s website for more information about laws here and other government websites for safety tips at Youth.Gov and OSHA.

Water is necessary for life. It is needed for growing of organic materials and also one of the most ubiquitous and easiest solvents to use for hygiene and cleaning. Therefore water is important in almost any job including: farming, landscaping, industrial production and manufacturing, and recreational activities such as lifeguarding etc. Some jobs are obvious such as fishing, shipping, commercial diver, oil rig worker, sailor, river guide, etc. But others are less obvious such as working in a car wash. When considering occupational health, it is important to ask specifically about what the person does in the job. For example, a surveyor or archaeologist may work in very wet settings and are outside in all types of weather.

A car wash has many potential occupational hazards. There are moving vehicles and moving washing equipment which can cause mechanical and noise injuries. Additionally, there are chemicals being used as well as gas fumes which can cause lung, eye and dermatological problems. It is obviously a wet environment as well. The working surfaces are impermeable and hard which can cause orthopaedic problems too.

Learning Point
Exposure to wet or muddy conditions whether they are in warm or cold conditions can cause immersion skin problems. Prolonged contact with water increases irritation and dermatitis of the skin, increases the risk of mycosal and bacterial infections, and makes the skin more at risk for trauma effects such as thermal injury, pressure or chemicals. Over time changes can include hyperkeratosis, pain and parethesias, and even necrosis and gangrene.

“Warm-water-immersion foot [or tropical immersion foot] is a syndrome characterized by painful, white, wrinkled soles due to hyperhydration of the plantar straum corneum. This leads to maceration and chronic inflammation and vasculitis.” Because it is a warm environment, infections can be common.

Cold-water-immersion foot is better known as trench foot and has been well described in many literatures, especially the military. Similar problems to wet immersion occur. Additional injuries such as hypothermia and frostbite can occur.

The main treatment for immersion skin problems is prevention. Preventing skin from becoming wet in the first place by using protective clothing that is properly fitted (ill-fitting clothing cause localized trauma), changing into dry clothing regularly (e.g. clean, layered and loose to promote circulation), monitoring for trauma such as blisters and secondary infections such as tinea, allowing enough time between exposures for the skin to recover, and decreasing venous stasis by keeping legs elevated and gently rubbing mild lubricants to prevent drying and increase venous circulation. Keeping the body a normal temperature and preventing hypothermia is important. The skin is usually best warmed at room temperature as additional heating could potentially cause thermal injury.

Questions for Further Discussion
1. How is frostbite similar to trench foot? A review can be found here
2. How do you treat hyperthermia and hypothermia?
3. How do you treat a drowning victim?
4. What were some of your own jobs and the potential occupational health risks?

Related Cases

    • Disease: Immersion Foot Injury |

Foot Injuries and Disorders

    • Symptom/Presentation:


    • Specialty:


    • |

Preventive Medicine and Health Maintenance

    • Age:


To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Foot Injuries and Disorders and Frostbite.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Zani MLC, Lazzarini R, Silva-Junior JS. Warm-water immersion foot among car wash workers. Rev Bras Med Trab. 2017;15(3):217-221. doi:10.5327/Z1679443520170021

Hall A, Sexton J, Lynch B, et al. Frostbite and Immersion Foot Care. Mil Med. 2018;183(suppl_2):168-171. doi:10.1093/milmed/usy085

Rathjen NA, Shahbodaghi SD, Brown JA. Hypothermia and Cold Weather Injuries. Am Fam Physician. 2019;100(11):680-686.

Mistry K, Ondhia C, Levell NJ. A review of trench foot: a disease of the past in the present. Clin Exp Dermatol. 2020;45(1):10-14. doi:10.1111/ced.14031

Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

When is Post-Operative Bleeding Most Likely to Occur after a Tonsillectomy?

Patient Presentation
A 6-year-old male came to the emergency room because of oral bleeding the evening after having a tonsillectomy. His father said that the child seemed very uncomfortable and in pain and was refusing to drink. He had vomited and in the vomitus the father had seen dark red blood clots and some pink areas. After the emesis, the patient had been having continued “pink spit” but was not having any bright red blood or clots. He had urinated 6 hours previously and had a total of 2 emesis since the procedure. The procedure was performed because of multiple infections and “really big tonsils” according to the father and he had been told that there were no problems with the actual procedure. The past medical history revealed no problems with his circumcision around birth. The family history was negative for any bleeding problems in the family or patient. The review of systems showed him to have no airway problems or fever.

The pertinent physical exam showed he was crying but consolable. He could talk appropriately and had normal mentation. Vital signs showed respiratory rate of 22/minute, pulse of 98/minute, blood pressure of 114/72. Weight was 50% and was not different from his pre-operative weight. HEENT showed eyes, nose and ears to be normal. The patient was spitting out very light pinkish saliva. Oral examination revealed a clot with some oozing in one area. There did not appear to be other oral lesions. His airway was patent and he had good air exchange in his lungs.

The diagnosis of post-operative oral bleeding was made. The patient was hemodynamically stable but was refusing to drink and his pain was not adequately controlled. The patient was given IV fluids and one dose of codeine. After this the patient was more comfortable and with re-inspection the oozing continued but was not getting worse. He was monitored for a few hours and during that time he took ibuprofen, was able to drink cold fluids and the oozing stopped. The patient was discharged, and the patient’s clinical course the next day with telephone followup found that he continued to have pain but the family was able to get him to drink. He had no more bleeding and no respiratory problems. They were instructed to be more aggressive with using over the counter pain medications to keep him comfortable.

Tonsillectomy is one of the most commonly performed surgical procedures in the US with pressure equalizing tubes and circumcisions also being among the top procedures. About 500,000 are performed yearly in the US in children under 15 years. Primary indications are recurrent throat infections (e.g. “< 7 episodes in past year, < 5 episodes in the past 2 years, or < 3 episodes per year in the past 3 years.”) and obstructive sleep apnea.

Potential complications include:

  • *Pain – treated with ibuprofen or acetaminophen as the first choice and other medications as needed. Pain control also decreases the risk of dehydration from poor oral intake
  • *Structural edema – usually occurs in first few hours, dexamethasone is often given during surgery to help treat this and prevent nausea and emesis
  • Direct trauma to oral and head and neck structures
  • Airway and lung complications
  • Nausea, emesis, dehydration
  • Hemorrhage
  • Infection – is always a possibility, but usually is not treated presumptively
  • Delayed feeding
  • Speech disorders
  • Death

*=some occurs with almost all patients because of the type of procedure.

Hemorrhage or bleeding can range from mucous tinged secretions to severe bleeding. Most is minor but even with episodes that resolve or where a clot is seen, severe bleeding can still occur in the future.
History of number of episodes, estimated blood volume seen, bleeding duration, time since last bleeding episode along with detailed family history of potential bleeding disorders and NPO status are important to obtain. Location of the blood is also important as swallowed blood may be a cause for concern in parents but is not actual oral bleeding. On physical examination hemodynamic instability or airway compromise needs aggressive treatment. The oral cavity should be examined for presence of active bleeding, presence of clot or fibrin clot (see more in To Learn More below).

Minor bleeding (where patients are hemodynamically stable and patient has oozing/small clot formation) can be cauterized with electrocautery or silver nitrate if needed. More severe bleeding usually warrants assessment by an otolaryngologist and may need direct pressure, surgical packing and/or surgical treatment to manage the bleeding. Airway management at all times is important. Monitoring in the emergency room or through hospitalization is also an important consideration. Treatment includes assessment, home or inpatient monitoring, and more aggressive management such as direct pressure, surgical packing and surgical treatment along with airway management.

Learning Point
As the tonsillar bed lies close to major arteries, during and immediately after a tonsillectomy there is a risk of bleeding associated with the procedure. This is defined as primary hemorrhage. Within hours, the main complications are pain and edema of the surrounding structures. A fibrin clot forms in the first 24 hours after surgery which has a characteristic white/grey appearance. This fibrin clot helps to protect the area from complications. On days 5-7 this clot separates which leave a thin stroma covering the area. It is this time period when the area has relatively little protection that the peak incidence of more significant bleeding occurs. This is secondary hemorrhage. A thick epithelium layer then grows to cover by day 12-17 and during this time the risk of complications decreases.

A systemic review and meta-nalysis performed in 2017 found “post-tonsillectomy hemorrhage associated non-operative revisits/readmission or reoperation ranged from 0.2%-5.7% for total tonsillectomy and from 0.1%-3.7% for partial tonsillectomy.” Four deaths were reported among ~1.8 million children in a case series. Hemorrhage rates were different depending on the indication, technique used and total or partial tonsillectomy, and age (e.g. higher in teenagers).

Questions for Further Discussion
1. How common is bleeding after circumcision?
2. What are indications for pressure-equalizing tube placement?
3. What questions should you ask to obtain a potential bleeding history for the patient and family?
4. What are indications for evaluation for a potential bleeding disorder?
Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Bleeding and Tonsillitis.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Francis DO, Fonnesbeck C, Sathe N, McPheeters M, Krishnaswami S, Chinnadurai S. Postoperative Bleeding and Associated Utilization following Tonsillectomy in Children. Otolaryngol Head Neck Surg. 2017;156(3):442-455. doi:10.1177/0194599816683915

Tan GX, Tunkel DE. Control of Pain After Tonsillectomy in Children: A Review. JAMA Otolaryngol Head Neck Surg. 2017;143(9):937-942. doi:10.1001/jamaoto.2017.0845

Wall JJ, Tay K-Y. Postoperative Tonsillectomy Hemorrhage. Emerg Med Clin North Am. 2018;36(2):415-426. doi:10.1016/j.emc.2017.12.009

Mitchell RB, Archer SM, Ishman SL, et al. Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary. Otolaryngol Head Neck Surg. 2019;160(2):187-205. doi:10.1177/0194599818807917

Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

Considerations About Deciding to Send a Child to School

Patient Presentation
A 5-year-old female came to clinic for her health supervision visit. Her mother was concerned because she had recently taken a kindergarten readiness test which showed lower achievement for mathematical skills because she would identify 3 numbers and wrote only 2 numbers. At home, her mother described her as being able to count to 10 with 1:1 correspondence, she understood “bigger and smaller, “more and less” and could group items by color. She also seemed interested in numbers in her environment such as street signs, addresses, cash registers, and household items. Her parents had been working with her on letters and thought she knew most of her numbers. She had not been in daycare or a formal preschool setting. Her mother said she was interested in things around her, did well at her play group a couple days a week and in playing with siblings and cousins daily. Her extended family members had no concerns about her development. She knew most letters by sight and could write her name, colors, liked to build with household items, and draw and paint. She could do personal care such as feeding and toileting.

The past medical history was positive for pressure equalizing tubes but with normal audiology testing. The family history was negative for school problems. Both parents had finished high school and the father was consistently employed. The mother worked a few hours a week while extended family provided child care.

The pertinent physical exam showed a smiling child with normal vital signs. Her growth parameters were 75% and tracking appropriately. Her vision testing was normal as was the rest of her physical examination.

The diagnosis of a healthy female was made. The pediatrician counseled the mother that she was probably ready to go to school but that the lower math testing may be something to monitor. “She hasn’t really been in a school environment yet and maybe she didn’t feel as comfortable when they asked her to tell or write the numbers. It seems that she understands many things about math like the idea of “more or less” and you tell me that she can count toys at home,” the pediatrician said. She went on, “You might want to talk with the school again about if they have concerns about her starting and if she does, how they are going to watch her and help her. They should have a plan about how to talk with you about the progress she is making too. See how worried they are about this, but my guess is that she will be fine with more practice on the numbers and being more comfortable in the classroom.” The patient’s clinical course showed that the family worked with her to learn her numbers before starting school in the fall. At a parent-teacher conference 4 weeks into the school year, the teacher had no concerns about her specific skills but reported that she was a very friendly girl who is making friends and was learning the classroom routines. She was slower with the routines than others probably because she hadn’t done them as much and felt she was making good progress. The parent said that she was learning when she had to raise her hand to talk or not and sometimes she did it at funny times like during dinner.

For parents there can be a lot of pressure to “get it right” when deciding to send their child to school. Positive adult life outcomes such as employment, physical and mental health, and prosocial relationships are associated with higher educational attainment. Higher educational attainment such as finishing high school and potentially an advanced degree is associated with positive school experiences and domain specific skill attainment (e.g. reading, writing, math skills) and is also associated with readiness to begin school. Therefore if a child is “not ready” to start school, then the parent can feel that they are setting their child up for potentially poorer outcomes for their entire life. Especially as children spend a significant amount of their time in school over many years, the quality of that education is important. Which also means that starting children in school when they have the knowledge, skills and attitudes to successfully learn is important.

Risk factors for poor school readiness includes:

  • Poverty – one of the most important, this is across ethnic and racial groups, most likely because of lack of resources, less parental education, poorer health, etc.
  • Living foster or kinship care – especially foster care, most likely because of unstable living arrangements
  • Maternal depression – potentially being less available to the child
  • Developmental disability
  • Prenatal/natal factors such as tobacco or alcohol exposure, and low birthweight

Obviously some of these factors cannot be readily changed for the individual child or family, but others can be mitigated.
Some measures which enhance school readiness and school success include:

  • Access to preschool
  • Reading to the child at home – review of risk factors for grade retention can be found here
  • Positive parenting by adults who are supported themselves – A review of parenting styles can be found here
  • Consistent living situation – A review of health problems in the homeless population can be found here
  • Access to resources at home including reading and writing materials
  • Access to resources in the community including physical and mental health resources

Learning Point
The answer to when a child is ready to start school is multifactorial with some group characteristics being helpful in making the decisions.
Remembering that the school readiness decision is not the only determiner of if a child succeeds in school. The child and parent will have almost 13 years of schooling to help them to be successful before high school graduation.

According to the American Academy of Pediatrics, school readiness in the child includes:

  • “[P]hysical well-being and sensory motor development, including health status and growth;
  • [S]ocial and emotional development, including self-regulation, attention, impulse control, capacity to limit aggressive and disruptive behaviors, turn-taking, cooperation, empathy and the ability to communicate one’s own emotions; identification of feelings facilitates accurate communication of these feelings;
  • [A]pproaches to learning, including enthusiasm, curiosity, temperament, culture and values;
  • [L]anguage development including listening, speaking, and vocabulary, as well as literacy skills, including print awareness, story sense, and writing and drawing processes;
  • [G]eneral knowledge and cognition, including early literacy and math skills”

Some non-academic skills that sometimes are overlooked but are important life skills include being able to follow instructions (i.e. responding to name, complying with simple or multi-step instructions), functionally communicating (e.g. requesting assistance or attention from peers or adults), and social skills (e.g. tolerating delays, offering/sharing with others, comforting others, etiquette such as saying “please” or “thank you”). These skills can be taught. A list of some more specific skills for school readiness can be found here.

School readiness testing often may look mainly or only at the academic skills of the child. These types of tests can be helpful as part of the decision making process but by themselves usually should not be a reason to exclude an otherwise “ready” child. They can be helpful for monitoring a child particularly in an area of weakness or to provide instruction in those areas.

For an individual child the parents should look at the child holistically and make an assessment. Family members, childcare, school and healthcare professionals can help with the decision by providing insights and guidance about the individual child and family situation, but it is ultimately the parent’s decision. Most children are “ready” around age 5 years. Data supports that over the last 20-30 years in the US children are now more ready for school. Parents should consider if they do not send their child, what will the child do during that year that will make them “ready” the following year. Will they have access to specific educational interventions for example. Does that intervention need to be for a whole year, or would additional intervention in the kindergarten classroom still provide the necessary opportunities for the child. Parents can consider if the child had been in a classroom type setting before and for how long. Is the child succeeding in that setting or are their major problems. Some parents are worried about their child with a summer birthday who will be “younger” that some of the other children. In general, if the child is developmentally appropriate in the social/emotional area, the child usually is ready for school.

A review of school failure can be found here
A review of risk factors for grade retention can be found here

Questions for Further Discussion
1. What is the pediatrician’s role in helping families get their child ready for school or being successful in school?
2. What resources are available in your local community to support school readiness and success?
3. How common is dyscalculia? A review can be found here
4. How do gifted children present? A review can be found here

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Child Behavior Disorders and Learning Disabilities.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Shah PE, Kaciroti N, Richards B, Lumeng JC. Gestational Age and Kindergarten School Readiness in a National Sample of Preterm Infants. J Pediatr. 2016;178:61-67. doi:10.1016/j.jpeds.2016.06.062

Pinto G, Bigozzi L, Tarchi C, Vezzani C, Accorti Gamannossi B. Predicting Reading, Spelling, and Mathematical Skills: A Longitudinal Study From Kindergarten Through First Grade. Psychol Rep. 2016;118(2):413-440. doi:10.1177/0033294116633357

Fahmie TA, Luczynski KC. Preschool life skills: Recent advancements and future directions. Journal of Applied Behavior Analysis. 2018;51(1):183-188. doi:

Williams PG, Lerner MA, Council on Early Childhood, Council on School Health. School Readiness. Pediatrics. 2019;144(2). doi:10.1542/peds.2019-1766

Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

What Problems are Ciliopathies Associated With?

Patient Presentation
A 6-month-old female came to clinic for her health supervision visit. Her mother was worried because she seemed to often turn her head differently or held it in a strange posture. This had not been present at her 4 month visit but was occurring more over the past month. Light didn’t seem to bother her and she seemed to respond to face and voice. Her mother also said that she could roll over but it was rare. She was not sitting by herself, but could with support. Her body didn’t seem to move in strange ways when seated.

The past medical history was non-contributory. The family history was positive for strokes in older family members and heart disease. There was no history of early infant deaths or genetic problems.

The pertinent physical exam showed normal vital signs and growth parameters were 50-75% for age and tracking appropriately. She would look at the examiner but would seem to throw her head in the direction of where she wanted to look. She also seemed to be floppier in her mother’s arms. Neurological examination showed that she had abnormal eye movements that seemed to be more lateral movements, but occasionally there were some strange vertical movements as well. The eyes did not have “roving” movements. Her pupils were equal, round and responsive to light. She did seem to be able to fix on the examiner’s face or an interesting object. She had decreased tone overall. She could push herself up from prone but it was poor and not sustained. She would not roll over and would “clamshell” when put into a seated posture. She did not seem to have abnormal truncal movements when seated. Strength appeared to be intact.

The diagnosis of a 6 month old with new onset of abnormal eye movements and hypotonia was made. She was seen by ophthalmology within 2 days who made the diagnosis of ocular motor apraxia. The ophthalmologist also ordered a head magnetic resonance imaging study because of the risk of a potential syndrome which showed hypoplasia of the corpus callosum. The patient had also been referred to physical therapy and neurology. The ophthalmologist, neurologist and general pediatrician conferred about the potential further evaluation of the patient and agreed to genetic testing for possible causes including nephronophthisis. The patient was doing well in physical therapy and the genetic testing was pending. The family had not gotten other laboratories such as an urinalysis yet.

Nephronophthisis (NPHP) one cause of end-stage renal disease (ESRD) usually occurring before age 30 years. NPHP is a non-motile ciliopathy affecting cellular sensing in the renal tubular epithelium. See To Learn More below.
The incidence varies according to location with 1:1 million in the US but 1:50,000 in Finland.

There are 3 subtypes:

  • Infantile
    • Occurs usually within 1 year of life
    • Enlarged kidneys and severe hypertension
    • In utero can have oligohydramnios problems such as pulmonary hypoplasia, facial dysmorphisms, limb contractures
    • Extra-renal problems include congenital heart disease, liver fibrosis, recurrent pulmonary infections
  • Juvenile
    • Most common
    • Occurs generally by early adolescence (median age 13 years)
    • Normal size or small kidneys, impaired concentrating and electrolyte abnormalities, chronic kidney disease, normal blood pressure
    • Extra-renal problems include brain malformations (cerebellar vermis aplasia), retinal degeneration and gaze problems including ocular motor apraxia, liver fibrosis and skeletal defects
    • Common presentations include poor growth, polydipsia, polyuria, and chronic iron-resistant anemia
  • Adolescent
    • Occurs by later adolescence
    • Manifestations are similar to juvenile type

Genetically there are many different genes associated with NPHP which are of autosomal recessive inheritance.
Up to 80+% of individuals may have no extra-renal problems.

NPHP is associated with other syndromes include Joubert syndrome, Oculomotor Apraxia (Cogen type), Meckel-Gruber syndrome, Senior-Loken syndrome, and various syndromic skeletal defects.

A review of ocular motor apraxia can be found here.

Learning Point
Cilia are found on most vertebrate cells. They can be motile or immotile. Cilia are an important cell membrane structure and most of the genes encoding it are conserved. There are multiple genes that cause ciliopathies. Those that are errant often are associated with the basal structures that integrate into the plasma membrane and the areas adjacent to it (primary ciliopathies). Secondary ciliopathies are caused by mutations not in the cilia itself but help the cilia to function.

Problems associated with ciliopathies include:

  • Motile cilia
    • These can move a cell (such as sperm) or move overlying fluid such as lungs, brain ependymal cells and oviducts
    • Hydrocephalus
    • Infertility
    • Respiratory problems, chronic
  • Non-motile cilia
    • Most sensory cilia are non-mobile but can also be mobile.
    • Hydrocephalus
    • Anosmia
    • Central nervous system including ataxia, epilepsy, intellectual disability, malformations
    • Facial anomalies
    • Genital problems including hypogonadism
    • Hearing problems
    • Liver fibrosis
    • Obesity, central
    • Renal dystrophy
    • Skeletal problems
  • Both
    • Organ laterality problems including the node which is a transient developmental structure important for left-right axis determination
    • Congenital heart disease

Questions for Further Discussion
1. What are indications for dialysis? A review can be found here
2. What are indications for renal transplant?
3. What is in the differential diagnosis of hypotonia? A review can be found here

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Kidney Failure and Eye Diseases.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Deacon BS, Lowery RS, Phillips PH, Schaefer GB. Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. J AAPOS. 2013;17(3):332-333. doi:10.1016/j.jaapos.2013.02.003

Stokman M, Lilien M, Knoers N. Nephronophthisis. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®® University of Washington, Seattle; 1993. Accessed April 12, 2021.

Reiter JF, Leroux MR. Genes and molecular pathways underpinning ciliopathies. Nature Reviews Molecular Cell Biology. 2017;18(9):533-547. doi:10.1038/nrm.2017.60

Luo F, Tao Y-H. Nephronophthisis: A review of genotype-phenotype correlation. Nephrology (Carlton). 2018;23(10):904-911. doi:10.1111/nep.13393

Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa