[Familial nephropathy with retinitis pigmentosa and peripheral dysostosis].
The paper reports two siblings, 6 and 3 3/4 years old, with a congenital nephropathy (nephronophthisis), retinitis pigmentosa, heart failure and peripheral dysostosis. The severe histological changes of the kidneys with tubular atrophy and interstitial fibrosis caused the death of the older sister at the age of 7 years. The symptoms of our patients are discussed in comparison to the syndrome described by MAINZER et al.
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging; D006333:Heart Failure / Q000150:complications; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000401:mortality; D008297:Male; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome
Familiäre Nephropathie mit Retinitis pigmentosa und peripherer Dysostose.