Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.
A 12 year-old boy was referred because of general weakness, enuresis and pallor which had been present for at least six months. Previously, the child had been hospitalized at the age of five, because of mental retardation and hepatosplenomegaly, for which no cause could be found. He had severe renal insufficiency, with all the hallmarks of nephronophthisis. In addition his vision was very poor and fundoscopy revealed tapetoretinal degeneration. The liver and spleen were grossly enlarged. Liver function was almost completely normal, but histology showed diffuse periportal febrosis with profiferation of the bile ducts. This observation seems to confirm the existence of a new syndrome, associating nephronophthisis and liver fibrosis as described by Boichis and coworkers (1973).
D001344:Autopsy; D001706:Biopsy; D002493:Central Nervous System Diseases / Q000150:complications*; D002648:Child; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics*; D007677:Kidney Function Tests; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000150:complications*; D008111:Liver Function Tests; D008297:Male; D012162:Retinal Degeneration / Q000150:complications*; D013577:Syndrome