title: A family with five siblings affected with nephronophthisis.
abstract: Nephronophthisis is an autosomal recessive disease that leads to end-stage renal disease. These days, molecular genetic analysis is used pre-emptively for making a definitive diagnosis in patients who have clinical and radiological data suggestive of the disease. Herein, we are reporting a 12-year-old girl who was genetically diagnosed to have juvenile nephronophthisis, which explained the mystery of the chronic kidney disease in her four affected siblings.
authors.affiliation: Department of Pediatrics, Jordan University Hospital, Amman, Jordan.
authors.forename: Jumana
authors.initials: J
authors.lastname: Albaramki
authors.forename: Kamal
authors.initials: K
authors.lastname: Akl
authors.forename: Radi
authors.initials: R
authors.lastname: Hamed
authors.forename: Ayman
authors.initials: A
authors.lastname: Wahbeh
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D002648:Child; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007676:Kidney Failure, Chronic / Q000235:genetics; D016030:Kidney Transplantation; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009395:Nephritis, Interstitial / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D006435:Renal Dialysis; D017384:Sequence Deletion; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human