ABSTRACT
Objectives: Autoimmune diseases are known to occur in people with Down's syndrome [DS], especially celiac disease, type 1 diabetes mellitus [DM], and hypothyroidism. Since there are common genetic risk factors involved in the occurrence of these autoimmune disorders, the risks would differ in different populations. We sought to determine the prevalence of type 1 DM, celiac disease, and hypothyroidism in Emirati patients with DS in Abu Dhabi, UAE
Methods: Ninety-two patients with DS were investigated for the presence of anti-thyroid antibodies, antithyroglobulin, and anti-thyroid peroxidase antibodies for hypothyroidism, anti-glutamic acid decarboxylase antibodies for type 1 DM, and anti-tissue transglutaminase immunoglobulin A antibodies for celiac disease
Results: Karyotyping was performed on 89 patients. Eighty-seven had non-disjunction of chromosome 21 [97.8%], one was a mosaic, and one had translocation. Of the patients studied, 19.6% had hypothyroidism, 4.3% had type 1 DM, and 1.1% had celiac disease. Out of the 92 patients studied, 66 [71.7%] did not have any autoimmune disease, 25 [27.2%] had one autoimmune disease, and one [1.1%] had two autoimmune diseases
Conclusions: Celiac disease was the least prevalent autoimmune disease in patients with DS patients, while type 1 DM and hypothyroidism were both significantly associated with DS
ABSTRACT
This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism [IEM] among Emiratis. The reported mutation spectrum included all patients who were diagnosed with IEM [excluding those with lysosomal storage diseases [LSD]] at Tawam Hospital Metabolic Center in Abu Dhabi, United Arab Emirates, between January 1995 and May 2013. Disease prevalence [per 100,000 live births] was estimated from data available for 1995-2011. In 189 patients, 57 distinct IEM were diagnosed, of which 20 [35%] entities were previously reported LSD [65 patients with 39 mutations], with a birth prevalence of 26.87/100,000. This study investigated the remaining 37 [65%] patients with other IEM [124 patients with 62 mutations]. Mutation analysis was performed on 108 [87%] of the 124 patients. Five patients with biotinidase deficiency had compound heterozygous mutations, and two siblings with lysinuric protein intolerance had two homozygous mutations. The remaining 103 [95%] patients had homozygous mutations. As of this study, 29 [47%] of the mutations have been reported only in Emiratis. Two mutations were found in three tribes [biotinidase deficiency [BTD, c.1330G>C] and phenylketonuria [PAH, c.168+5G>C]]. Two mutations were found in two tribes [isovaleric aciduria [IVD, c.1184G>A] and propionic aciduria [PCCB, c.990dupT]]. The remaining 58 [94%] mutations were each found in individual tribes. The prevalence was 48.37/100,000. The most prevalent diseases [2.2-4.9/100,000] were biotinidase deficiency; tyrosinemia type 1; phenylketonuria; propionic aciduria; glutaric aciduria type 1; glycogen storage disease type Ia, and mitochondrial deoxyribonucleic acid depletion. The IEM birth prevalence [LSD and non-LSD] was 75.24/100,000. These results justify implementing prevention programmes that incorporate genetic counselling and screening