Catalog

Juvenile nephronophthisis

No MMS code

Link to WHO Definition

Juvenile nephronophthisis – http://id.who.int/icd/entity/502211326

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.