Nephronophthisis, a pediatric challenge

• Autor(a) principal: Garcia,Ana M
• Data de Publicação: 2019
• Outros Autores: Gomes,Sónia M, Francisco,Telma, Serrão,Ana P
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692019000200011
• topic: chronic kidney disease; ciliopathy; nephronophthisis; urinary concentration defect

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. A 10-year-old caucasian female patient presented to our hospital with a history of uncontrolled vomiting and signs of moderate dehydration. 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. 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 therapeutic intervention.