Chapter 357 Cystic Diseases of the Biliary Tract and Liver
Cystic lesions of liver may be initially recognized during infancy and childhood (see 
Table 357-1 on the Nelson Textbook of Pediatrics website at www.expertconsult.com). Hepatic fibrosis can also occur as part of an underlying developmental defect (see 
Table 357-2 on the Nelson Textbook of Pediatrics website at www.expertconsult.com). Cystic renal disease is usually associated and often determines the clinical presentation and prognosis. Virtually all proteins encoded by genes mutated in combined cystic diseases of the liver and kidney are at least partially localized to primary cilia in renal tubular cells and cholangiocytes.
Table 357-1 RENAL DISORDERS ASSOCIATED WITH FIBROPOLYCYSTIC LIVER DISEASES
| FIBROPOLYCYSTIC LIVER DISEASE | ASSOCIATED RENAL DISORDER |
|---|---|
| Congenital hepatic fibrosis (CHF) | Autosomal-recessive polycystic kidney disease* Autosomal-dominant polycystic kidney disease Cystic renal dysplasia Nephronophthisis None |
| Caroli’s syndrome (CS) | Autosomal-recessive polycystic kidney disease* Autosomal-dominant polycystic kidney disease None |
| Caroli’s disease | Autosomal-recessive polycystic kidney disease |
| Von Meyenburg complexes (isolated) | ? |
| Von Meyenburg complexes with CHF or CS | Autosomal-recessive polycystic kidney disease |
| Von Meyenburg complexes with polycystic liver disease | Autosomal-dominant polycystic kidney disease |
| Polycystic liver disease | Autosomal-dominant polycystic kidney disease* ? None |
* Most common associated disorders.
From Suchy FJ, Sokol RJ, Balistreri WF, editors: Liver disease in children, ed 3, New York, 2007, Cambridge University Press, p 27.
Table 357-2 SYNDROMES ASSOCIATED WITH CONGENITAL HEPATIC FIBROSIS
| SYNDROME | FEATURES |
|---|---|
| Jeune synrome | Asphyxiating thoracic dystrophy, with cystic renal tubular dysplasia and congenital hepatic fibrosis (15q13) |
| Joubert’s syndrome | Oculo-encephalo-hepato-renal (AH11, HPHP1) |
| COACH syndrome | Cerebellar vermis hypoplasia, oligophrenia, congintal ataxia, ocular coloboma, and hepatic fibrosis |
| Meckel syndrome type 1 | Cystic renal dysplasia abnormal bile duct development with fibrosis, posterior encephalocele, and polydactyly (13q13, 17a21, 8q24) |
| Carbohydrate-deficient glycoprotein syndrome type 1b | Phosphomannose isomerise 1 deficiency (PMI) |
| Ivemark syndrome type 2 | Autosomal-recessive renal-hepatic-pancreatic dysplasia |
| Miscellaneous syndromes | Intestinal lymphangiectasia, enterocolotis cystic Short rib (Beemer-Langer) syndrome Osteochondrodysplasia |
From Suchy FJ, Sokol RJ, Balistreri WF, editors: Liver disease in children, ed 3, New York, 2007, Cambridge University Press, p 931.
