Catalog
Nephronophthisis
Link to WHO Definition
Nephronophthisis – http://id.who.int/icd/entity/158151813
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 multisystem genetic disorders (e.g. Senior-Loken, Cogan, Joubert)