Synonyms: Boichis disease | Nephronophthisis-hepatic fibrosis syndrome
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure polyuria polydipsia anemia as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis destruction of the bile ducts and cholestasis. Mild psychomotor retardation and ocular symptoms such as strabismus nystagmus retinal degeneration and anisocoria have been reported in some patients.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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