دورية أكاديمية
أعرض في EDS

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

التفاصيل البيبلوغرافية
العنوان: Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.
المؤلفون: Waldman M; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States., Han JC; Unit on Metabolism and Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States; Section on Growth and Obesity, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States; Departments of Pediatrics and Physiology, University of Tennessee Health Science Center, Le Bonheur Children's Foundation Research Institute, Memphis, TN, United States., Reyes-Capo DP; Unit on Metabolism and Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States., Bryant J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Carson KA; Department of Epidemiology, The Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA; Division of General Internal Medicine, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, United States., Turkbey B; Molecular Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, United States., Choyke P; Molecular Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, United States., Naggert JK; The Jackson Laboratory, Bar Harbor, ME, United States., Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda 20892, MD, United States., Marshall JD; The Jackson Laboratory, Bar Harbor, ME, United States., Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD, United States. Electronic address: mgaygun@mail.nih.gov.
المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2018 Sep; Vol. 125 (1-2), pp. 181-191. Date of Electronic Publication: 2018 Jul 24.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
اللغة: English
بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Orlando, FL : Academic Press, c1998-
مواضيع طبية MeSH: Alstrom Syndrome/*genetics , Dyslipidemias/*genetics , Obesity/*genetics , Proteins/*genetics, Adult ; Alstrom Syndrome/complications ; Alstrom Syndrome/metabolism ; Alstrom Syndrome/pathology ; Cardiomyopathies/complications ; Cardiomyopathies/genetics ; Cardiomyopathies/metabolism ; Cardiomyopathies/pathology ; Cell Cycle Proteins ; Dyslipidemias/complications ; Dyslipidemias/metabolism ; Dyslipidemias/pathology ; Female ; Humans ; Insulin Resistance/genetics ; Kidney/metabolism ; Kidney/pathology ; Kidney Diseases/complications ; Kidney Diseases/genetics ; Kidney Diseases/metabolism ; Kidney Diseases/pathology ; Male ; Mutation ; Obesity/complications ; Obesity/metabolism ; Obesity/pathology ; Retinal Degeneration
مستخلص: Alström Syndrome is a ciliopathy associated with obesity, insulin resistance/type 2 diabetes mellitus, cardiomyopathy, retinal degeneration, hearing loss, progressive liver and kidney disease, and normal cognitive function. ALMS1, the protein defective in this disorder, localizes to the cytoskeleton, microtubule organizing center, as well as the centrosomes and ciliary basal bodies and plays roles in formation and maintenance of cilia, cell cycle regulation, and endosomal trafficking. Kidney disease in this disorder has not been well characterized. We performed comprehensive multisystem evaluations on 38 patients. Kidney function decreased progressively; eGFR varied inversely with age (p = 0.002). Eighteen percent met the definition for chronic kidney disease (eGFR < 60 mL/min/1.73 m 2 and proteinuria); all were adults with median age of 32.8 (20.6-37.9) years. After adjusting for age, there were no significant associations of kidney dysfunction with type 2 diabetes mellitus, dyslipidemia, hypertension, cardiomyopathy or portal hypertension suggesting that kidney disease in AS is a primary manifestation of the syndrome due to lack of ALMS1 protein. Approximately one-third of patients had hyperechogenicity of the renal parenchyma on imaging. While strict control of type 2 diabetes mellitus may decrease kidney-related morbidity and mortality in Alström syndrome, identification of novel targeted therapies is needed.
(Copyright © 2018. Published by Elsevier Inc.)
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معلومات مُعتمدة: Z99 MH999999 United States ImNIH Intramural NIH HHS; UL1 TR001079 United States TR NCATS NIH HHS; ZIA HD008898 United States ImNIH Intramural NIH HHS; R01 HD036878 United States HD NICHD NIH HHS; Z99 HL999999 United States ImNIH Intramural NIH HHS; ZIA HD008898 United States HD NICHD NIH HHS; ZIA HD000641 United States ImNIH Intramural NIH HHS; Z01 BC010656 United States ImNIH Intramural NIH HHS
فهرسة مساهمة: Keywords: ALMS1; Alström syndrome; Chronic kidney disease; Ciliopathy; Insulin resistance; Metabolic syndrome
المشرفين على المادة: 0 (ALMS1 protein, human)
0 (Cell Cycle Proteins)
0 (Proteins)
تواريخ الأحداث: Date Created: 20180802 Date Completed: 20190426 Latest Revision: 20210324
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC7984722
DOI: 10.1016/j.ymgme.2018.07.010
PMID: 30064963
قاعدة البيانات: MEDLINE
الوصف
تدمد:1096-7206
DOI:10.1016/j.ymgme.2018.07.010