Paediatric Nephrology Unit, Department of Paediatrics
Hospital de Dona Estefânia, Centro Hospital Universitário de Lisboa Central, EPE
- Abstract published Portuguese Journal Nephrology Hypertension, 2019, 33(2): 126-129
Introduction: Nephronophthisis is an autosomal recessive cystic kidney disease characterized by reduced concentrating ability of the kidney, chronic tubulointerstitial nephritis, cystic renal disease and progression to end-stage renal disease. In 10-20% of cases it is associated with a variety of other ciliopathy phenotypes.
Case report: A 10-year-old caucasian female patient presented to our hospital with a history of uncontrolled vomiting and signs of moderate dehydra- tion. Past medical history was significant for reduced visual acuity and moderate intellectual disability with a minor cerebellar dysplasia. She also complained of polyuria, polydipsia and enuresis for several years. Laboratory screening revealed a low urine specific gravity and renal insufficiency that were maintained after intravenous rehydration. Based on the clinical picture, a ciliopathy was considered, particularly nephronophthisis with neurological manifestation and confirmed by genetic molecular analysis.
Conclusion: In conclusion, this case report reinforces the diagnostic challenge of nephronophthisis because of its unspecific presentation and significant overlap with other ciliopathy phenotypes. Therefore, in the presence of a urinary concentration defect and renal impairment, with or without other extra-renal manifestations, nephronophthisis should be considered in the differential diagnosis to allow a prompt diagnosis and thera- peutic intervention.
Keywords: chronic kidney disease, ciliopathy, nephronophthisis, urinary concentration defect