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Cystic fibrosis and the liver--a Saudi experience
1Department of Paediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Insights
Cystic fibrosis (CF) often presents with liver issues in Saudi infants, leading to delayed diagnosis. Increased awareness of these hepatic manifestations is crucial for early detection and better outcomes in developing regions.
Area of Science:
- Medical Genetics
- Pediatric Hepatology
- Public Health
Background:
- Cystic fibrosis (CF) is a common autosomal recessive disorder, particularly in Caucasian populations.
- Saudi Arabia's high consanguinity rate and limited diagnostic facilities contribute to underdiagnosis of CF in infants.
- Hepatic manifestations of CF are often overlooked, especially in developing countries.
Purpose of the Study:
- To highlight the significance of hepatic presentations in diagnosing cystic fibrosis (CF) in Saudi Arabia.
- To raise awareness among healthcare providers about the liver-related symptoms of CF.
- To underscore the challenges in diagnosing CF in regions with limited resources.
Main Methods:
- Retrospective analysis of 36 diagnosed cystic fibrosis cases over a 6-year period (1986-1992).
- Review of referral diagnoses for patients initially presenting with liver disorders.
- Analysis of clinical data, including consanguinity, sibling history, and mortality.
- Examination of liver biopsy findings in a subset of patients.
Main Results:
- Nine out of 36 patients (25%) were initially referred for investigation of liver disorders, including jaundice, glycogen storage disease, hepatomegaly, and neonatal hepatitis.
- Liver biopsies revealed portal fibrosis and steatosis in five cases.
- Consanguinity was noted in eight cases, with two patients being siblings.
- Four patients died, and three families reported previous infant deaths with CF-like symptoms.
Conclusions:
- Hepatic presentation is a relatively common and serious feature of cystic fibrosis among Saudi patients.
- Early recognition of liver manifestations is critical for timely CF diagnosis and management in Saudi Arabia.
- Underdiagnosis of CF in infants is a significant issue, necessitating improved clinical suspicion and diagnostic capabilities.
Abstract:
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 word. 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.