更新于：2024-11-01

Mucolipidosis 2

黏脂贮积症Ⅱ型

更新于：2024-11-01

基本信息

别名

Mucolipidosis 2

简介-

关联

项与黏脂贮积症Ⅱ型相关的药物

M-002

靶点

IL-12R

作用机制

IL-12R刺激剂

在研机构

M6P Therapeutics初创企业

原研机构

M6P Therapeutics初创企业

在研适应症

黏脂贮积症Ⅱ型 [+1]

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

100 项与黏脂贮积症Ⅱ型相关的临床结果

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100 项与黏脂贮积症Ⅱ型相关的转化医学

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0 项与黏脂贮积症Ⅱ型相关的专利（医药）

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项与黏脂贮积症Ⅱ型相关的文献（医药）

2023-03-01·JIMD Reports

Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II

作者: Bruyndonckx, Luc ; Eyskens, Margot ; Eyskens, François ; Van Kuilenburg, André B. P.

AbstractWe report a unique case of an infant with a severe dilated cardiomyopathy as the clinical presentation of sialidosis type II (OMIM 256550), a rare autosomal recessive inherited lysosomal storage disease that is characterized by partial or complete deficiency of α‐neuraminidase, following mutations in the gene neuraminidase 1 (NEU1), located on the short arm of chromosome 6 (6p21.3). Accumulation of metabolic intermediates leads to severe morbidity, especially myoclonus, gait disturbances, cherry‐red macules with secondary loss of visual acuity, impaired color vision and night blindness, and sometimes additional neurological findings such as seizures. Dilated cardiomyopathies are characterized by dilation and impaired contraction of the left or both ventricles, whereas most of the metabolic cardiomyopathies are hypertrophic forms appearing with diastolic dysfunction and, in case of lysosomal storage diseases, often associated with valvular thickening and prolapse. Cardiac manifestations in systemic storage disorders are common although rarely described in mucolipidoses. In mucolipidosis type 2 or I‐cell disease only three cases were presented with severe dilated cardiomyopathy and endocardial fibroelastosis in infancy, as opposed to sialidosis type II, by which to the best of our knowledge no presentation of dilated cardiomyopathy was previously reported in literature.

2023-01-01·Ceskoslovenska patologie

Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.

Review

作者: Ježová, Marta ; Vlašín, Pavel ; Pavlovská, Denisa ; Grochová, Ilga ; Michenková, Andrea

We present a comprehensive review dealing with rare genetic skeletal disorders. More than 400 entities are included in the latest classification. The most severe or lethal phenotypes are identifiable in the prenatal period and the pregnancy can be terminated. Perinatal autopsy and posmortem X-rays are crucial in providing a definitive diagnosis. The number of cases confirmed by genetic testing is increasing. We report our own experience with genetic skeletal disorders based on 41 illustrative fetal and neonatal cases which we encountered over a 10-year period. Thanatophoric dysplasia and osteogenesis imperfecta represent approximately half of the cases coming to autopsy. Achondrogenesis type 2 and hypochondrogenesis, short-rib dysplasia, chondrodysplasia punctata, campomelic dysplasia and achondroplasia are less common. Skeletal dysplasias with autosomal recessive inheritance are the least frequent, e.g. perinatally lethal hypophophatasia, achondrogenesis type 1A, diastrophic dysplasia/atelosteogenesis type 2 or mucolipidosis type 2 (I cell disease).

2022-06-01·Journal of American Association for Pediatric Ophthalmology and Strabismus

Anterior megalophthalmos in sisters with Witteveen-Kolk syndrome

Article

作者: Bohnsack, Brenda L ; Jacobson, Adam

Anterior megalophthalmos is a form of anterior segment dysgenesis characterized by megalocornea (>12.5 mm) coupled with an enlarged lens-iris diaphragm and ciliary body ring. Importantly, intraocular pressure (IOP) is normal, and in contrast to buphthalmos, the ratio of anterior segment to vitreous cavity measurements is increased. Anterior megalophthalmos may be an isolated ocular finding, or it may be associated with syndromes such as albinism, Down syndrome, Frank-Ter-Haar, Marfan, Neuhauser, mucolipidosis type 2, and osteogenesis imperfecta. We report anterior megalophthalmos in 2 sisters with genetically confirmed (SIN3A, c.1657C>T, p.R553∗) Witteveen-Kolk syndrome (OMIM #613406).