Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.

BACKGROUND: Alström syndrome (AS) represents an exceptionally rare genetic disorder characterized by a constellation of features including cardiomyopathy, progressive hearing and vision impairment, as well as obesity. This study seeks to elucidate the genetic underpinnings of this syndrome within the Saudi Arabian population. METHODS: Employing an extended family cohort, we conducted an exhaustive molecular genetic assessment to delineate the presence of Alström syndrome. Additionally, we conducted an extensive review of existing literature from Saudi population to contextualize our findings within the broader understanding of the disorder in our country. RESULTS: Within our studied extended family, we identified two individuals harboring the homozygous pathogenic mutation (c.2729C>G) in the ALMS1 gene [NM_015120.4:c.2729C>G (p.Ser910*)]. Notably, carrier status was observed in the parents, whereas some siblings exhibited typical alleles while others were carriers of the mutation. Intriguingly, a review of the literature unveiled six distinct reports documenting a total of 20 Alström syndrome patients within the Saudi Arabian population, each presenting with distinct novel mutations. CONCLUSIONS: In cases featuring cardiomyopathy, obesity, and progressive hearing and vision loss, Alström syndrome merits inclusion within the differential diagnosis. To confirm the diagnosis, molecular genetic assessment of the ALMS1 gene is imperative, offering definitive clarity amidst the complex clinical presentation. This investigation reinforces the importance of genetic scrutiny for precise diagnosis and highlights the unique genetic landscape of Alström syndrome within the Saudi Arabian population.

Prevalence and Risk Factors of Allergic Rhinitis Among the Population in the Makkah Region, Saudi Arabia: A Cross-Sectional Study.

Background Allergic rhinitis (AR) is considered a high global disease burden; hence, the shortage of knowledge would lead to poor adherence to management and preventive measures and increase the exacerbation of AR symptoms. This study aimed to evaluate the prevalence and risk factors, and assess the knowledge and practices of the population regarding AR among the population in Makkah city, Saudi Arabia. Methodology This was an online survey cross-sectional study conducted in December 2022 via social media platforms (WhatsApp and Twitter) to collect data on participants' demographics, prevalence, risk factors, knowledge, and attitudes toward AR, using a validated Arabic version of a self-administered questionnaire. Results The study involved 466 participants. Of the participants, 55.8% were aged 31 to 45 years, and 286 (61.4%) were females. The prevalence of AR among the participants was 45%. The most common symptoms were a blocked nose (79.6%), sneezing (74.2%), and a runny nose (71.5%). Furthermore, the prevalence of rhinoconjunctivitis in this study was 56%. The most common inhalant allergen was house dust (73.0%). Only the age and history of asthma or eczema were significant factors associated with AR. Overall, most of the subjects (94.85%) had adequate knowledge regarding AR. Conclusion A high prevalence of AR was observed. Understanding the factors linked with AR is imperative to ensure better adherence to preventive management plans.

Hereditary Hemochromatosis Associated With Idiopathic Refractory Aplastic Anemia in a Five-Year-Old Boy: A Case Report.

Hereditary hemochromatosis (HH) is a multisystem disease characterized by iron overload and various clinical presentations, including cirrhosis, diabetes mellitus, and heart failure. HH can be caused by the human homeostatic iron regulator (HFE) and non-HFE gene mutations. Aplastic anemia is a rare, life-threatening bone marrow failure in which fat replaces pluripotent stem cells, resulting in pancytopenia and hypoplasia of bone marrow. We present a case of a five-year-old-boy who initially presented with a large ecchymosis located at the right side of the chest and abdomen. These started suddenly after minor trauma. Later, he was diagnosed with idiopathic aplastic anemia and treated with immunosuppressive therapy (IST). As part of the workup for pancytopenia, we ordered whole exome sequencing (WES) and diagnosed the patient with autosomal recessive hereditary hemochromatosis (ARHH). The ARHH is caused by HFE pathogenic gene mutation variant (c.187C>G p homozygous genotype). After six months of IST, he still had persistent disease. Human leukocyte antigen (HLA) typing showed he has a sister who is a full match but also has ARHH. Because of this, a haploidentical hematopoietic stem cell transplantation (hHSCT) from the father was performed. The hHSCT had a successful outcome. We suggest that in children with idiopathic aplastic anemia, physicians should be aware of the possibility of co-existing hereditary hemochromatosis or secondary hemochromatosis. Serum ferritin and transferrin saturation should also be measured regularly in order to detect early hemochromatosis.