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Nephronophthisis: a variant.

Farkhanda Hafeez·Farooq Rasool·Tahir Masood Ahmad
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Abstract

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.

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Abnormalities, MultipleAdolescentCerebellar AtaxiaDiagnosis, DifferentialHumansIntellectual DisabilityKidneyKidney Failure, ChronicMaleRetinitis PigmentosaCase ReportsJournal Article

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Farkhanda Hafeez, Farooq Rasool, Tahir Masood Ahmad. 2005. Nephronophthisis: a variant.. https://doi.org/06.2005/jcpsp.368370

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