Genetic services and testing in the Sultanate of Oman. Sultanate of Oman steps into modern genetics.

The Sultanate of Oman is a rapidly developing Muslim country with well-organised government-funded health care services, including primary, secondary and tertiary, and rapidly expanding medical genetic facilities. At the present time, the Omani population is characterised by a rapid rate of growth, large family size, consanguineous marriages, and the presence of genetic isolates. The preservation of a tribal structure in the community coupled with traditional isolation has produced unique and favourable circumstances for building genealogical records and the study of genetic disease. Genetic services developed in the Sultanate of Oman in the past decade have become an important component of health care. The recently constructed Genetic Centre in Muscat expects to meet the needs of the Omani population in provision of genetic services and research, in a manner deferential to the cultural and religious traditions of the country.

Serum KL-6 differentiates neuroendocrine cell hyperplasia of infancy from the inborn errors of surfactant metabolism.

BACKGROUND: The study was conducted in order to determine if the glycoprotein KL-6 is a useful biomarker in differentiating neuroendocrine cell hyperplasia of infancy (NEHI), a benign form of children's interstitial lung disease, from the more severe inborn errors of surfactant metabolism (IESM), since their clinical presentation can be similar. METHODS: Serum KL-6 levels were measured in 10 healthy control children, 6 with NEHI and 13 with IESM (4 with surfactant protein C (SP-C) and 9 with ABCA3 mutations). The initial clinical presentation, findings on previous CT scans and interstitial lung disease (ILD) scores at the time of KL-6 testing were compared. Correlations of KL-6 levels with age and with interval from lung biopsy were evaluated. RESULTS: The median (range) KL-6 levels were 265 (1-409), 194 (47-352), 1149 (593-4407) and 3068 (726-9912) U/ml for the control, NEHI, SP-C and ABCA3 groups, respectively. When compared with the control and NEHI groups, median KL-6 levels were significantly higher in the SP-C (p<0.01; p = 0.01, respectively) and ABCA3 groups (p<0.001; p = 0.001, respectively); however, there was no difference between the control and NEHI groups (p = 0.91). An inverse relationship was seen between KL-6 levels and age in the IESM groups, but not in the NEHI or control groups. Children with NEHI had similar presenting clinical features and were equally symptomatic at the time of KL-6 measurement as those with IESM. CONCLUSIONS: Children with NEHI have normal KL-6 levels, in contrast to those with IESM, who have elevated serum KL-6 levels; serum KL-6 may be a useful biomarker in distinguishing between these entities when their clinical presentations overlap.