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
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 +3 more sources
Alström syndrome: the journey to diagnosis [PDF]
Orphanet Journal of Rare DiseasesBackground Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy ...
Akshat Sinha +4 more
doaj +3 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
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 +3 more sources
Novel Unreported Variants in Alstrom Syndrome 1 Gene Causing Alstrom Syndrome
Journal of Ophthalmological Society of West BengalWe report a case of Alstrom Syndrome (ALMS) due to mutation in ALMS1 and EYS gene caused by an unreported variant. The case revealed a heterozygous variant c.3298del on exon8 and c.11250del on exon16 of the ALMS1 gene.
Rupak Roy, Ahana Sen
exaly +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.
Ahmed M, Ahmed AR, Farman RA.
europepmc +4 more sources
Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome. [PDF]
JCEM Case RepBardet-Biedl syndrome (BBS) and Alström syndrome (AS) are rare autosomal recessive ciliopathies characterized by severe multisystemic involvement, including metabolic, sensory, and developmental impairments.
Dauleh H, Mohammed I, Hussain K.
europepmc +2 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
Alström syndrome in China: epidemiologic trends, geographic distribution, and clinical-socioeconomic profiles under innovative care models. [PDF]
BMC PediatrAlström syndrome (ALMS) is a progressive multisystem disorder characterized by early-onset obesity, severe insulin resistance, type 2 diabetes, dyslipidemia, cardiomyopathy, and metabolic-associated steatotic liver disease.
Zhang Q +6 more
europepmc +2 more sources