Alstrom Syndrome: A Systematic Review

被引：0

作者：

La Macchia, Tommaso ^{[1
]}

Mancuso, Alessio ^{[2
]}

Ceravolo, Maria Domenica ^{[2
]}

Cuppari, Caterina ^{[2
,8
]}

Chimenz, Roberto ^{[3
]}

Farello, Giovanni ^{[4
]}

Gitto, Eloisa ^{[5
]}

Iapadre, Giulia ^{[6
]}

Ceravolo, Ida ^{[7
]}

机构：

[1] Univ Messina, Dept Clin & Expt Med, Unit Cardiol, Messina, Italy

[2] Univ Messina, Dept Human Pathol & Evolut Age Gaetano Barresi, Messina, Italy

[3] Univ Messina, Fac Med & Surg, Messina, Italy

[4] Pediat Clin, Dept Life Hlth & Environm Sci, Piazzale Salvatore Tommasi 1, Coppito, AQ, Italy

[5] Univ Messina, Dept Human Pathol Adult & Dev Age Gaetano Barresi, Neonatal & Pediat Intens Care Unit, Messina, Italy

[6] Univ L Aquila, Dept Pediat, Laquila, Italy

[7] Univ Messina, Dept Clin & Expt Med, Messina, Italy

[8] Univ Messina, G Martino Policlin, Dept Human Pathol Adulthood & ChildhoodG Barresi, Unit ofEmergency Pediat, Via Consolare Valeria, I-98124 Messina, Italy

来源：

JOURNAL OF PEDIATRIC NEUROLOGY | 2023年 / 21卷 / 01期

关键词：

Alstrom syndrome; ciliopathies; ALMS1; Bardet-Biedl syndrome; obesity; IDIOPATHIC INTRACRANIAL HYPERTENSION; PSEUDOTUMOR CEREBRI; SPECTRUM; MUTATION; DISORDERS; OBESITY; ONSET;

D O I：

10.1055/s-0042-1759535

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Alstrom syndrome (AS) is a rare multisystem disorder characterized by cone-rod retinal dystrophy leading to vision loss, hearing deficiency, obesity, type 2 diabetes mellitus, and insulin resistance with hyperinsulinemia. The conditions include dilated cardiomyopathy, recurrent fibrotic pulmonary infections, and progressive renal, hepatic, and endocrinological dysfunction. Other clinical findings consist of thyroid problems, short height, and growth hormone insufficiency. In addition, patients present with normal IQ, but in some cases delay in psychomotor and cognitive development is described. There is no treatment for AS, and life expectancy is around 40 years. However, an early identification of the disease can help in reducing the progression to severe conditions and in ameliorating the patient's quality of life. Our intent was to analyze the clinical data in literature on AS and provide an up-to-date review.

引用

页码：15 / 17

页数：3

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