scholarly journals Glargine U300 Insulin as a Better Option than Degludec U100 to Treat a Congenital Generalized Lipodystrophy Patient

2017 ◽  
Vol 1 (1) ◽  
Author(s):  
Lima Josivan G ◽  
Lima Natalia N ◽  
Lima Ricardo LM ◽  
Baracho Maria FP ◽  
Nobrega Lucia HC
Keyword(s):  
Congenital Generalized Lipodystrophy

STUDIES IN CONGENITAL GENERALIZED LIPODYSTROPHY

1973 ◽  
Vol 72 (3) ◽  
pp. 495-505 ◽  
Author(s):  
Oddmund Søvik ◽  
Svein Oseid
Keyword(s):  
Biological Activity ◽  
Insulin Response ◽  
Epididymal Adipose Tissue ◽  
Large Individual ◽  
Immunoreactive Insulin ◽  
List Type ◽  
Glucose Load ◽  
Congenital Generalized Lipodystrophy ◽  
The One

ABSTRACT The biological activity of plasma insulin from 4 cases of congenital generalized lipodystrophy has been studied, using rat diaphragm and epididymal adipose tissue in vivo. The results are compared with previous data on plasma immunoreactive insulin obtained in these patients. 2 of the 4 cases exhibited unusually high biological insulin activities during the fasting state as well as after an intravenous (iv) glucose load. In the fat pad assay activities as high as 10 000 μU insulin per ml were observed. During childhood the biological insulin activities were generally high, although there were large individual variations. However, in the one case studied after the age of puberty, the insulin response to a glucose load was negligible. Taken together, the biological and immunological activities observed strongly suggest the presence of pancreatic insulin in these patients. It appears that the circulating insulin has a fully biological activity. The decreasing insulin activities after cessation of growth are in agreement with the appearance of frank diabetes at this time.

STUDIES IN CONGENITAL GENERALIZED LIPODYSTROPHY (SEIP-BERARDINELLI SYNDROME)

1973 ◽  
Vol 72 (3) ◽  
pp. 475-494 ◽  
Author(s):  
Svein Oseid
Keyword(s):  
Insulin Resistance ◽  
Glucose Tolerance ◽  
Normal Glucose Tolerance ◽  
Juvenile Form ◽  
Congenital Generalized Lipodystrophy ◽  
Glucose Levels ◽  
Normal Glucose ◽  
Glucose Tolerance Tests ◽  
The One ◽  
Adipose Organ

ABSTRACT Six cases of congenital generalized lipodystrophy have been studied at different ages from infancy to adolescence with regard to glucose tolerance, insulin secretion, and insulin sensitivity. During the first few years of life there is normal glucose tolerance. The fasting immuno-reactive insulin (IRI) levels are either slightly elevated or normal. The IRI response to glucose is exaggerated and prolonged, at least from the third year of life. Some degree of insulin resistance is already present in infancy. From the age of 8–10 years glucose tolerance decreases rapidly. The fasting IRI levels are usually grossly elevated, while fasting plasma glucose levels are only moderately elevated or normal. The IRI responses to oral and iv administered glucose, and to tolbutamide are exaggerated; the insulinogenic indices are high. Cortisone primed glucose tolerance tests become abnormal. Insulin resistance is marked, and increases with age. After cessation of growth at approximately 12 years of age, frank diabetes with fasting hyperglycaemia and diabetic glucose tolerance curves developed in the one patient followed beyond this age. Her fasting IRI was increased, but there was a poor IRI response to glucose stimulation, suggesting a partial exhaustion of the β-cells. Her initial IRI response to tolbutamide was still good, but not as brisk as in the younger patients. This type of diabetes is quite different from the juvenile form, and also from the diabetes of older age. It may be causally related to the lack of an adequate adipose organ necessary for the disposal of excesses of glucose, or possibly related to another anti-insulin mechanism.

Ophthalmologic Findings in Congenital Generalized Lipodystrophy—A Possible Marker of Metabolic Disorders

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 628-P
Author(s):  
VIRGINIA O. FERNANDES ◽  
LORENA M.A. GOMES ◽  
ANA PAULA D.R. MONTENEGRO ◽  
CLARISSE M.M. PONTE ◽  
LIVIA A.A. BATISTA ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Congenital Generalized Lipodystrophy

Sleep Disorders in Patients with Congenital Generalized Lipodystrophy

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 2192-PUB
Author(s):  
VIRGINIA O. FERNANDES ◽  
CARLA P. SILVA ◽  
ANA PAULA D.R. MONTENEGRO ◽  
CLARISSE M.M. PONTE ◽  
LIVIA A.A. BATISTA ◽  
...  
Keyword(s):  
Sleep Disorders ◽  
Congenital Generalized Lipodystrophy

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family

2015 ◽  
Vol 58 (4) ◽  
pp. 216-221 ◽  
Author(s):  
Musharraf Jelani ◽  
Saleem Ahmed ◽  
Mona Mohammad Almramhi ◽  
Hussein Sheikh Ali Mohamoud ◽  
Khadijah Bakur ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Congenital Generalized Lipodystrophy ◽  
Saudi Family

Biallelic CAV1 null variants induce Congenital Generalized Lipodystrophy with achalasia

2021 ◽  
Author(s):  
Asuman Nur Karhan ◽  
Jamila Zammouri ◽  
Martine Auclair ◽  
Emilie Capel ◽  
Feramuz Demir Apaydın ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Hdl Cholesterol ◽  
Membrane Microdomains ◽  
Phenotypic Traits ◽  
Major Protein ◽  
Genetic Transmission ◽  
Caveolin 1 ◽  
Congenital Generalized Lipodystrophy ◽  
Pathogenic Variants ◽  
Low Hdl

Objective : CAV1 encodes caveolin-1, a major protein of plasma membrane microdomains called caveolae, involved in several signalling pathways. Caveolin-1 is also located at the adipocyte lipid droplet. Heterozygous pathogenic variants of CAV1 induce rare heterogeneous disorders including pulmonary arterial hypertension and neonatal progeroid syndrome. Only one patient was previously reported with a CAV1 homozygous pathogenic variant, associated with congenital generalized lipodystrophy (CGL3). We aimed to further delineate genetic transmission, clinical, metabolic and cellular characteristics of CGL3. Design/Methods: In a large consanguineous kindred referred for CGL, we performed next-generation sequencing, as well as clinical, imagery and metabolic investigations. We studied skin fibroblasts from the index case and the previously reported patient with CGL3. Results: Four patients, aged 8 months to 18 years, carried a new homozygous p.(His79Glnfs*3) CAV1 variant. They all displayed generalized lipodystrophy since infancy, insulin resistance, low HDL-cholesterol and/or high triglycerides, but no pulmonary hypertension. Two patients also presented at the age of 15 and 18 years with dysphagia due to achalasia, and one patient had retinitis pigmentosa. Heterozygous parents and relatives (n=9) were asymptomatic, without any metabolic abnormality. Patients’ fibroblasts showed a complete loss of caveolae and no protein expression of caveolin-1 and its caveolin-2 and cavin-1 partners. Patients’ fibroblasts also displayed insulin resistance, increased oxidative stress and premature senescence. Conclusions: The CAV1 null variant investigated herein leads to an autosomal recessive congenital lipodystrophy syndrome. Loss of caveolin-1 and/or caveolae induces specific manifestations including achalasia which requires specific management. Overlapping phenotypic traits between the different CAV1-related diseases require further studies.

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