" /> Juvenile nephronophthisis - CISMeF





Preferred Label : Juvenile nephronophthisis;

ICD-11 definition : Autosomal recessive disease characterised by polyuria, polydipsia, enuresis and chronic kidney disease with end stage renal failure occurring between birth and late adolescence depending on the NPHP gene involved. Extra-renal manifestations occur with associated syndromes. Confirmation is by blood sample, BUN test, 24-hour urine collection, blood creatinine sample, uric acid test, and urine sample.;

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Autosomal recessive disease characterised by polyuria, polydipsia, enuresis and chronic kidney disease with end stage renal failure occurring between birth and late adolescence depending on the NPHP gene involved. Extra-renal manifestations occur with associated syndromes. Confirmation is by blood sample, BUN test, 24-hour urine collection, blood creatinine sample, uric acid test, and urine sample.

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08/07/2025


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