脂肪营养不良综合征PPT课件
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AGPAT2 and BSCL2.
完整版课件
8
Congenital Generalized Lipodystrophy
Congenital generalized lipodystrophy in A, a 6-month-old infant with promi-
nent muscularity and veins, B, a 16-year-old girl with acanthosis nigricans and
完整版课件
4
classification
congenital generalized lipodystrophy (CGL) acquired generalized lipodystrophy (AGL)
familial partial lipodystrophy (FPL)
acquired partial lipodystrophy (APL)
Therapies
完整版课件
2
definition and
Classification
完整版课件
3
definition
A heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue ，
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)
HAART-associated lipodystrophy syndrome
完整版课件
5
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 .
later in adolescence.
完整版课件
7Biblioteka Baidu
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
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
完整版课件
6
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
umbilical prominence, C, a 15-year-old boy with umbilical prominence and
otherwise normal appearing muscular habitus.
完整版课件
9
acquired generalized lipodystrophy
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
Lipodystrophy syndromes
完整版课件
1
definition and classification
Clinical Findings of the Major Lipodystrophy Subtypes
structure
Clinical Characteristics Diagnosis
which may occur in conjunction with pathological accumulation of fat in other distinct regions of the body，Belonged to the
autonomic nervous system diseases
完整版课件
8
Congenital Generalized Lipodystrophy
Congenital generalized lipodystrophy in A, a 6-month-old infant with promi-
nent muscularity and veins, B, a 16-year-old girl with acanthosis nigricans and
完整版课件
4
classification
congenital generalized lipodystrophy (CGL) acquired generalized lipodystrophy (AGL)
familial partial lipodystrophy (FPL)
acquired partial lipodystrophy (APL)
Therapies
完整版课件
2
definition and
Classification
完整版课件
3
definition
A heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue ，
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)
HAART-associated lipodystrophy syndrome
完整版课件
5
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 .
later in adolescence.
完整版课件
7Biblioteka Baidu
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
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
完整版课件
6
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
umbilical prominence, C, a 15-year-old boy with umbilical prominence and
otherwise normal appearing muscular habitus.
完整版课件
9
acquired generalized lipodystrophy
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
Lipodystrophy syndromes
完整版课件
1
definition and classification
Clinical Findings of the Major Lipodystrophy Subtypes
structure
Clinical Characteristics Diagnosis
which may occur in conjunction with pathological accumulation of fat in other distinct regions of the body，Belonged to the
autonomic nervous system diseases