Nephronophthisis: a variant.
The case report describes a young boy with renal, retinal, hepatic and cerebellar involvement in a rare syndrome. He had polyuria, deranged renal functions and cystic lesions in kidneys, which led to the diagnosis of nephronophthisis (NPH). Extra-renal involvement with night blindness, truncal ataxia, mental retardation and hepatosplenomegaly. Thus, every patient with NPH should be carefully examined for extra-renal involvement.
Hafeez
Farkhanda
F
Department of Paediatrics Nephrology, The Children's Hospital, & Institute of Child Health, Lahore. riazrafi@yahoo.com
Rasool
Farooq
F
Ahmad
Tahir Masood
TM
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D002524:Cerebellar Ataxia / Q000151:congenital / Q000175:diagnosis; D003937:Diagnosis, Differential; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D007668:Kidney / Q000002:abnormalities*; D007676:Kidney Failure, Chronic / Q000151:congenital / Q000175:diagnosis; D008297:Male; D012174:Retinitis Pigmentosa / Q000151:congenital / Q000175:diagnosis