Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg.

Qatar is a country in the Gulf area and member of the Gulf Cooperation Council states. The country is populated by original Qatari tribes that amount to about 200,000 people and about 600,000 expatriates mainly from Arabic and Asian countries. Inbreeding over centuries and high rates of consanguinity in the Qatari population and in some groups of expatriates, in addition to large family sizes and rapid population growth, have contributed to a high frequency of autosomal recessive disorders. In December 2003 Hamad Medical Corporation in Doha and the University Children's Hospital of Heidelberg, Germany, started an extended state-wide neonatal screening programme for metabolic and endocrine disorders, with the laboratory situated in Heidelberg, Germany. All aspects of the screening process had to be adapted to the unique situation of the laboratory being 6000 km from the birthplace of the neonates. Within 32 months, samples of 25,214 neonates were screened. In 28 cases an endocrine or metabolic diagnosis was identified (incidence 1:901, in Germany 1:1728). In particular, a variety of monogenic metabolic diseases were prevalent, with 19 patients detected giving an incidence of metabolic diseases of 1:1327 (Germany 1:2517). Each euro spent on the screening programme saved more than 25 euros in health and social costs. The programme revealed a high incidence of treatable inborn metabolic diseases in the population of Qatar. A reliable screening for classical homocystinuria showing a unique incidence of >1:3000 and for sickle cell disease has now been added.

Rare CFTR mutation 1525-1G>A in a Pakistani patient.

Cystic fibrosis (CF) is rare in non-Caucasian populations, and in such populations little is known about the spectrum of mutations and polymorphisms in the cystic fibrosis transmembrane conductance (CFTR) gene. We report the detection of a very rare CFTR mutation 1525-1G>A in intron 9 in a 5-year-old Pakistani child with typical clinical features of CF. It remains to be seen whether mutation 1525-1G>A is characteristic of Pakistani ethnicity with CF or associated with severe phenotypic features.

Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).

Twenty-nine subjects (17 families) with cystic fibrosis belonging to the same Bedouin tribe were screened for cystic fibrosis transmembrane regulator gene mutations (CFTR). Homozygous I1234V mutation in exon 19 was identified in all families with a relatively high rate of consanguinity (96.6 per cent). The homozygous I1234V mutation tended to present with a variable degree of pulmonary disease, pancreatic insufficiency and electrolyte imbalance. Homozygous I1234V was found to be a common mutation in the studied Bedouin tribe in Qatar.

Cystic fibrosis in a large kindred family in Qatar.

We describe 45 patients with cystic fibrosis (CF), diagnosed between June 1987 and May 1999, seen at the Hamad Medical Corporation, Qatar in the Arabian Gulf. Twenty-six of 32 families in the study were related and belonged to the same Bedouin tribe. The parents of 98% of these cases were consanguineous. Metabolic alkalosis and/or hypo-electrolytaemia were found in a large proportion of infants with CF. Cystic fibrosis in Qatari children is phenotypically variable with mild to moderate respiratory symptoms, and none of them died during this study. Among the non-Arabic-Asian patients, pulmonary symptoms were more severe, Pseudomonas colonization was earlier, pancreatic insufficiency occurred in infancy and four died in early life.

Outcome of congenital hydronephrosis in qatar.

Three hundred and eleven patients diagnosed to have congenital hydronephrosis proven by postnatal ultrasonography in a ten-year period between 1987 and 1996 were studied retrospectively. These were classified into mild degree of hydronephrosis in H (64%), moderate in 94 (30%) and severe in 18 (6%) patients, according to first post natal sonography and depending on the measurement of the anterio-posterior transverse diameter of the pelvi-calyceal system. Significant obstructive uropathy was documented in 66 patients by Technetium-Diethylene triamine penta acetic acid renogram (Tc99m DTPA Renogram Vesicoureteric reflux was found in 22 patients by voiding cysto-urethrogram. On follow-up the hydronephrosis regressed spontaneously in 99 (31.8%), was stable in 167 (53.6%) and needed operative intervention in 45 (14.4%) patients. The types of surgical operations were pyeloplasty in 49% and ureteric re-implantation in 27%. Fifteen (83%) of the children with severe hydronephrosis and 32 (34%) of the moderate hydronephrosis group were operated o while none of the children with the mild form required operative intervention. We recommend ultrasound follow-up for mild hydronephrosis and a coordinated approach and work-up for congenital moderate and severe hydronephrosis. Surgery should only be considered if renal function is affected.