Alström综合征:神经学表现和遗传学

IF 0.2 Q4 PEDIATRICS

Journal of pediatric neurology Pub Date : 2022-08-23 DOI:10.1055/s-0042-1759538

Giulia Spoto, E. Pironti, Greta Amore, Adriana Prato, Anna Scuderi, P. V. Colucci, I. Ceravolo, G. Farello, V. Salpietro, G. Iapadre, G. Rosa, Daniela Dicanio

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引用次数: 0

摘要

Alström综合征(ALMS)是一种少见的多效性、广谱性纤毛病。它是常染色体隐性遗传，与ALMS1基因突变有关，ALMS1基因参与纤毛功能。高临床异质性是ALMS的主要特征。锥杆营养不良伴失明、听力损失、肥胖、胰岛素抵抗和高胰岛素血症、2型糖尿病、高甘油三酯血症、内分泌异常、心肌病以及肾、肝和肺异常是最常见的体征和症状。

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Alström's Syndrome: Neurological Manifestations and Genetics

Abstract Alström syndrome (ALMS) is a rare ciliopathy with pleiotropic and wide spectrum of clinical features. It is autosomal recessively inherited and associated with mutations in ALMS1 , a gene involved in cilia functioning. High clinical heterogeneity is the main feature of ALMS. Cone-rod dystrophy with blindness, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, hypertriglyceridemia, endocrine abnormalities, cardiomyopathy, and renal, hepatic, and pulmonary anomalies are the most common signs and symptoms.

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来源期刊

Journal of pediatric neurology PEDIATRICS-

CiteScore

0.40

自引率

0.00%

发文量

期刊介绍： The Journal of Pediatric Neurology is a multidisciplinary peer-reviewed medical journal publishing articles in the fields of childhood neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience. The Journal of Pediatric Neurology, the official journal of the Society of Pediatric Science of the Yüzüncü Yil University in Turkiye, encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, neuroimage of the month, letters to the editor and book reviews.