CYSTIC-FIBROSIS AND THE LIVER - A SAUDI EXPERIENCE

Cystic fibrosis (CF) is an autosomal recessive disorder that is reported frequently among Caucasians. In view of the high rate of consanguinity in Saudi Arabia and the high number of children dying so young, many Saudi infants with CF remain undiagnosed owing to lack of clinical suspicion and proper diagnostic facilities. Over a 6-year period (1986-1992), we have made a diagnosis of CF in 36 cases. The aim of this report is to increase awareness of the hepatic presentation of CF in the developing world. Nine patients (25%) were originally referred to us as having liver disorders but subsequent investigations confirmed the diagnosis of CF. The referral diagnoses, number of patients in parentheses, were jaundice for investigation (four), glycogen storage disease (three), hepatomegaly for investigation (one) and neonatal hepatitis (one). Liver biopsies, obtained in five cases, demonstrated portal fibrosis and some steatosis. Consanguinity was present in eight cases, two were siblings. Four patients died. Three families had previously lost seven siblings during infancy with clinical features consistent with CF. It is concluded that hepatic presentation among Saudi patients with CF is relatively common, with serious sequelae.