Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems [PDF]
Clinical Case Reports, 2023 Alstrom syndrome is a rare genetic disorder with an autosomal recessive mutation in the ALMS1 gene. The disease's manifestations include ophthalmic problems, hearing loss, obesity, and cardiovascular disorders.
Shabnam Jalilolghadr +5 more
doaj +5 more sources
Infant Alstrom syndrome diagnosed by a new gene mutation: a case report [PDF]
Journal of International Medical Research, 2023 Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing.
Yujiao Ye +4 more
doaj +3 more sources
Advanced Chronic Kidney Disease (CKD) in a Patient With Alstrom Syndrome [PDF]
CureusAlstrom syndrome is an autosomal recessive disease. It affects multiple systems, including cardiovascular, renal, endocrine, and eyes. Our patient is a 25-year-old female who presented with elevated creatinine. Her past medical history was significant for hypothyroidism, polycystic ovarian syndrome, blindness, cataracts, hearing loss, and heart ...
Moeed Ahmed
exaly +4 more sources
Alström syndrome caused by maternal uniparental disomy [PDF]
American Journal of Ophthalmology Case Reports, 2023 Purpose: To describe a case of Alström syndrome arising from maternal uniparental disomy. Observations: A 13-month-old boy with poor vision and nystagmus was diagnosed with Alström syndrome based on genetic testing that identified a homozygous pathogenic
Madeline Q.R. Lopour +5 more
doaj +2 more sources
Neonatal-onset dilated cardiomyopathy as the initial manifestation of Alström syndrome: a case report [PDF]
Frontiers in PediatricsBackgroundObesity–retinopathy–diabetes syndrome, also known as Alström syndrome (AS), is an extremely rare autosomal recessive disorder caused by pathogenic variants in the Alström syndrome 1 (ALMS1) gene. Its estimated incidence is 1–9 cases per million,
Hua Wang +9 more
doaj +2 more sources
Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene [PDF]
Diabetology & Metabolic SyndromeBackground Alström syndrome is a serious monogenic rare disease with lacking systematic analyses of its endocrine and metabolic characteristics. Method Clinical data were obtained from Alström syndrome, and group comparison analyses were conducted. Whole
Huifang Peng +7 more
doaj +2 more sources
Persistent Prothrombotic State in a Patient With Alström Syndrome [PDF]
JACC: Case ReportsWe present the case of a patient with Alström syndrome who was found to have evidence of a prothrombotic state on autopsy after sudden cardiac death. To the best of our knowledge, this case of persistent prothrombotic milieu is the first described in a ...
Nihit Shah, BMBS, BMedSci +4 more
doaj +2 more sources
New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome [PDF]
BMC Ophthalmology, 2022 Purpose Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS.
Wan-Yu Cheng +5 more
doaj +2 more sources
Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness [PDF]
Indian Journal of Clinical Biochemistry, 2015 Alstrom's syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till
Afzal Ahmad, Charu Yadav
exaly +3 more sources
Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy [PDF]
Orphanet Journal of Rare Diseases, 2022 Objective Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging
Savas Dedeoglu +5 more
doaj +2 more sources