Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.
A boy aged 9 3/4 years with interstitial nephritis, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities is described. The association may be due to a new genetic disorder, since 2 similar cases have been reported.
D001706:Biopsy; D001848:Bone Diseases, Developmental / Q000150:complications*; D002524:Cerebellar Ataxia / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D005198:Fanconi Syndrome / Q000150:complications*; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D008297:Male; D012174:Retinitis Pigmentosa / Q000150:complications*