Singap Med J
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Cystic fibrosis (CF) is one of the common genetic disorders in the western world. It has been reported to be very rare in Asian populations. According to the Cystic Fibrosis Genetic Analysis Consortium, more than 1,000 mutations of the CF gene have been identified. The CF gene, named the cystic fibrosis transmembrane conductance regulator (CFTR), is located on chromosome 7 and composed of 27 exons. This study aims to detect possible CFTR gene mutations in Malays. ⋯ We report the finding of a carrier of the F508del mutation of the CFTR gene in the Malay population. Our finding revealed that CF could also affect the Malay population. Larger studies are necessary to determine the exact gene frequency of this population.
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Cholestasis associated with long-term total parenteral nutrition (TPN) occurs commonly in very low birth weight (VLBW) infants. Indeed, the majority of infants with TPN-associated cholestasis (TPNAC) respond very well to TPN withdrawal and full enteral feeding, yet some of them do not respond and have the potential for development of intractable cholestasis. It has been demonstrated that ursodeoxycholic acid (UDCA) has beneficial effects in treating TPNAC in various age groups. Nevertheless, the clinical data of UDCA use in VLBW infants, the most vulnerable group, are limited. We report the results of administration of UDCA therapy to VLBW infants with intractable TPNAC. ⋯ Our series data suggest that UDCA is safe and may be a potential treatment for intractable TPNAC if used within two weeks after TPN withdrawal and full enteral feeding. Sepsis may alter the effectiveness of UDCA therapy.