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 diseaseCystic renal dysplasiaNephronophthisisNone
Caroli’s syndrome (CS)	Autosomal-recessive polycystic kidney disease*Autosomal-dominant polycystic kidney diseaseNone
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 cysticShort rib (Beemer-Langer) syndromeOsteochondrodysplasia