J. clin. Path., 1976, 29, 11-16
Congenital hepatic fibrosis H. J. F. HODGSON, D. R. DAVIES, AND R. P. H. THOMPSON' From St Thomas' Hospital, London SE]
During 10 years four patients with congenital hepatic fibrosis were seen in a general hospital in London; three presented in adult life. It is suggested that the condition may account for a larger proportion of patients with chronic liver disease than has been thought to be the case.
SYNOPSIS
In 1961 Kerr et al separated congenital hepatic fibrosis from other types of 'juvenile cirrhosis'. They emphasized the histological appearances of the liver, namely, normal lobules of parenchyma separated by broad bands of fibrous tissue, abnormal interlobular bile ducts which were multiple and dilated, and
units/dl), serum bilirubin and aspartate aminotransferase (SGOT) levels normal, plasma urea 7 9 mmol/] (normal 7 0 mmol/l), creatinine clearance 56 ml/ min. Oesophagoscopy and radiology showed oesophageal varices. An elective end-to-side portal-caval anastomosis scarce portal veins, and also the association with was performed. At operation portal venous pressure renal abnormalities. More than 150 cases of this was 4-1 kPa (31 mmHg). The liver was enlarged and condition have now been reported (Sommerschild fibrotic, and there were many small cysts in the et al, 1973). The presentation between birth and kidneys. The extrahepatic biliary tree was normal. early adult life, the rarity of the condition, and the The histological appearances of a wedge biopsy good prognosis have often been emphasized. Indeed, specimen of the liver were thought to show inactive in this country in 1972 only 20 cases were known to a cirrhosis with nodular regeneration, the normal team surveying the condition (Okonkwo and Choa, architecture being broken up by broad fibrous bands 1972), but it may not be as rare as this, especially containing dilated bile ducts, but these appearances since some cases are misdiagnosed as cirrhosis (Kerr were later interpreted as those of congenital hepatic et al, 1962; Campana et al, 1974). fibrosis (fig 1). In this paper we describe four more patients, only He remained well for thlee years when ataxia and one of whom was referred from outside the hospital's difficulty in concentration developed. These improved district, while three were more than 30 years old at on a low-protein diet with oral neomycin and the time of diagnosis. It is suggested that, due to its lactulose therapy. In 1972 he complained of dyspepincorrect diagnosis, the condition may be more sia, loin pain, and haematuria. Radiology and endocommon than is usually thought. scopy showed duodenal ulceration but no varices. Intravenous pyelography showed the kidneys to be Case Reports of normal size, with multiple areas of punctate calcification and cysts 1-2 cm in diameter, mainly in the PATIENT 1 medulla. Creatinine clearance was 42 ml/min, serum A 36-year-old technical writer was admitted to St bilirubin 22-3-44-5 ,umol/l (normal < 17 limol/l); Thomas' Hospital in 1966 for investigation of two alkaline phosphatase 16-23 KA units/di; aspartate episodes of severe haematemesis and melaena over aminotransferase 90 iU/1 (normal
Congenital hepatic fibrosis H. J. F. HODGSON, D. R. DAVIES, AND R. P. H. THOMPSON' From St Thomas' Hospital, London SE]
During 10 years four patients with congenital hepatic fibrosis were seen in a general hospital in London; three presented in adult life. It is suggested that the condition may account for a larger proportion of patients with chronic liver disease than has been thought to be the case.
SYNOPSIS
In 1961 Kerr et al separated congenital hepatic fibrosis from other types of 'juvenile cirrhosis'. They emphasized the histological appearances of the liver, namely, normal lobules of parenchyma separated by broad bands of fibrous tissue, abnormal interlobular bile ducts which were multiple and dilated, and
units/dl), serum bilirubin and aspartate aminotransferase (SGOT) levels normal, plasma urea 7 9 mmol/] (normal 7 0 mmol/l), creatinine clearance 56 ml/ min. Oesophagoscopy and radiology showed oesophageal varices. An elective end-to-side portal-caval anastomosis scarce portal veins, and also the association with was performed. At operation portal venous pressure renal abnormalities. More than 150 cases of this was 4-1 kPa (31 mmHg). The liver was enlarged and condition have now been reported (Sommerschild fibrotic, and there were many small cysts in the et al, 1973). The presentation between birth and kidneys. The extrahepatic biliary tree was normal. early adult life, the rarity of the condition, and the The histological appearances of a wedge biopsy good prognosis have often been emphasized. Indeed, specimen of the liver were thought to show inactive in this country in 1972 only 20 cases were known to a cirrhosis with nodular regeneration, the normal team surveying the condition (Okonkwo and Choa, architecture being broken up by broad fibrous bands 1972), but it may not be as rare as this, especially containing dilated bile ducts, but these appearances since some cases are misdiagnosed as cirrhosis (Kerr were later interpreted as those of congenital hepatic et al, 1962; Campana et al, 1974). fibrosis (fig 1). In this paper we describe four more patients, only He remained well for thlee years when ataxia and one of whom was referred from outside the hospital's difficulty in concentration developed. These improved district, while three were more than 30 years old at on a low-protein diet with oral neomycin and the time of diagnosis. It is suggested that, due to its lactulose therapy. In 1972 he complained of dyspepincorrect diagnosis, the condition may be more sia, loin pain, and haematuria. Radiology and endocommon than is usually thought. scopy showed duodenal ulceration but no varices. Intravenous pyelography showed the kidneys to be Case Reports of normal size, with multiple areas of punctate calcification and cysts 1-2 cm in diameter, mainly in the PATIENT 1 medulla. Creatinine clearance was 42 ml/min, serum A 36-year-old technical writer was admitted to St bilirubin 22-3-44-5 ,umol/l (normal < 17 limol/l); Thomas' Hospital in 1966 for investigation of two alkaline phosphatase 16-23 KA units/di; aspartate episodes of severe haematemesis and melaena over aminotransferase 90 iU/1 (normal
