Nephronophthisis

Description

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)

Index terms

Nephronophthisis
Adult familial nephronophthisis - spastic quadriparesia
Juvenile nephronophthisis

Exclusions from above levels

01 – Certain infectious or parasitic diseases
05 – Endocrine, nutritional or metabolic diseases
18 – Complications of pregnancy, childbirth and the puerperium

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22 – Injury, poisoning or certain other consequences of external causes

Sibling codes

GB80 – Nonfamilial nongenetic cystic kidney disease
GB81 – Autosomal dominant polycystic kidney disease
GB82 – Autosomal dominant tubulointerstitial disease
GB8Y – Other specified cystic or dysplastic kidney disease
GB8Z – Cystic or dysplastic kidney disease, unspecified

Foundation entity

Nephronophthisis – http://id.who.int/icd/entity/158151813

Part of: 16: Diseases of the genitourinary system