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J Pediatr Genet
DOI: 10.1055/s-0041-1740369
Case-Based Review

Alstrom's Syndrome: An Experience of Tertiary Care Center

Ghadah Gosadi
1   Department of Pediatrics, Division of Metabolic and Medical Genetics, Prince Mohammed Bin Nasser Hospital, Jizan, Saudi Arabia
,
Maryam Busehail
2   Department of Pediatrics, Division of Metabolic and Medical Genetics, Salmaniya Medical Complex, Kingdom of Bahrain
,
Zuhair Rahbeeni
3   Department of Medical Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Abstract

Alstrom's syndrome (AS) is an autosomal recessively inherited multisystemic disorder that falls under the umbrella of ciliopathy. It is characterized by poor vision, hearing impairment, cardiomyopathy, childhood obesity, diabetes mellitus type 2, dyslipidemia, pulmonary, hepatic, and renal failure besides systemic fibrosis. Biallelic pathogenic variants in ALMS1 gene cause AS. Retrospective study (1990–2017) included 12 Saudi patients with AS based on their phenotype, biochemical markers, and genotype. The study was approved by Fisal Specialist Hospital and Research Centre, Riyadh (RAC number 2131129) on October 2, 2012. This study showed clinical and genetic heterogeneity; six patients showed a founder mutation (IVS18–2A > T in exon 19), whereas six others showed private mutations. AS in Saudi Arabia is underdiagnosed probably because of its variable clinical manifestations. We report 12 Saudi patients with AS to enhance the awareness about this syndrome.

Keywords

ALMS1 - retinal dystrophy - cardiomyopathy - developmental delay - hearing loss - non–insulin-dependent diabetes mellitus - consanguinity - Saudi Arabia

Note

The study was approved by Fisal Specialist Hospital and Research Centre, Riyadh (RAC number 2131129).




Publication History

Received: 16 December 2020

Accepted: 21 October 2021

Article published online:
14 December 2021

© 2021. Thieme. All rights reserved.

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