脂肪营养不良综合征[优质ppt]

definition and
Classification
definition
A heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue ， which may occur in conjunction with pathological accumulation of fat in other distinct regions of the body，Belonged to the autonomic nervous system diseases
acquired generalized lipodystrophy
AGL(获得性全身脂肪营养不良), or Lawrence syndrome(劳伦斯综合征), in contrast to CGL, patients with AGL are born with normal fat distribution but lose fat in a generalized fashion, typically starting in childhood or adolescence (rarely beginning after 30 years of age)
Congenital Generalized Lipodystrophy
CGL(先天性全身脂肪营养不良), or BerardinelliSeip syndrome（伯拉迪尼 - 塞普综合征）, is an autosomal recessive常染色体隐性遗传 disorder characterized by a generalized lack of adipose tissue at birth or shortly thereafter (within the first year of life), and is accompanied by prominent muscularity and subcutaneous veins .
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Congenital Generalized Lipodystrophy
Congenital generalized lipodystrophy in A, a 6-month-old infant with prominent muscularity and veins, B, a 16-year-old girl with acanthosis nigricans and umbilical prominence, C, a 15-year-old boy with umbilical prominence and otherwise normal appearing muscular habitus.
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Congenital Generalized Lipodystrophy
In early childhood, patients with CGL may exhibit hyperphagia 食欲过盛(possibly a manifestation of underlying leptin deficiency), accelerated linear growth, advanced bone age骨龄超前, or acromegaloid features (enlarged hands, feet, and mandible), while later in childhood, acanthosis nigricans黑棘皮症 can develop and become widespread . Hyperinsulinemia and hypertriglyceridemia高胰岛素血症和高甘油三酯血 症 can occur at an early age, with ketosis-resistant diabetes mellitus酮症性糖尿病 usually developing later in adolescence.
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classification
congenital generalized lipodystrophy (CGL) acquired generalized lipodystrophy (AGL)
familial partial lipodystrophy (FPL) acquired partial lipodystrophy (APL) HAART-associated lipodystrophy syndrome
Lipodystrophysyn dromes
definition and classification
Clinical Findings of the Major Lipodystrophy Subtypes
structure
Clinical Characteristics Diagnosis
Therapies
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Congenital Generalized Lipodystrophy
Hepatomegaly from severe hepatic steatosis is common and can progress to steatohepatitis脂肪性 肝炎, cirrhosis, and liver failure. females with CGL may have hirsutism, clitoromegaly, irregular menstrual periods, polycystic ovaries, and/or infertility .There are at least three kinds of diseasecausing genes, clinically divided into three subtypes: CGL1, CGL2, CGL3.95% of CGL for the first two subtypes, and mutations associated基因突变 AGPAT2 and BSCL2.