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GB83 Nephronophthisis

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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)

synonyms

• Nephronophthisis
• Adult familial nephronophthisis - spastic quadriparesia
• Juvenile nephronophthisis

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