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Familial partial lipodystrophy (FPLD) is a heterogeneous group of rare inherited disorders characterized by varying degrees of fat loss and metabolic abnormalities. The severity of metabolic derangements correlates with the extent of fat loss, thus highlighting the critical role of adipose tissue in glucose and lipid metabolism. ...
FPLD is a group of genetic disorders affecting predominantly adipogenesis, lipid droplet structure and function leading to altered adipose tissue topography. The altered storing capacity and endocrine function of affected adipocytes result into insulin resistance and ectopic fat accumulation with severe metabolic complications. Raised awareness ...
The cause of familial partial lipodystrophy (FPLD) Familial partial lipodystrophy can be caused by mutations in several genes — most commonly, mutations in the LMNA gene. LMNA and the other genes associated with FPLD provide instructions for making proteins with a variety of functions, including important roles in fat storage and adipocytes ...
Familial partial lipodystrophy, also known as Köbberling-Dunnigan syndrome, [2] is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. [3]: 495 FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso.
< Previous section; Next section > Causes. FPL is caused by mutations of specific genes. So far, mutations in five genes that cause FPL have been identified including the LMNA gene, which causes FPL2, Dunnigan variety; the PPARG gene, which causes FPL3; the PLIN1 gene, which causes FPL4; the AKT2 gene, which cases FPL5; and the CIDEC gene, which causes autosomal recessive FPL.
Familial partial lipodystrophy is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
The most well-studied type of FPL is the Dunnigan variety (FPLD) in which fat loss from the limbs and often the trunk, especially anteriorly and over the breasts, is usually accompanied by excess fat deposition over the face and neck. Metabolic abnormalities are similar to those seen in patients with CGL but may not be as severe in some patients.
Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Adipose tissue is normally found in many parts of the body, including beneath the skin and surrounding the internal organs.
FPLD Type 2: Also known as the Köbberling variety, it involves fat loss from the limbs and trunk similar to FPLD Type 1, but without the characteristic fat accumulation in the face. Genetic mutations associated with this subtype can vary. FPLD Type 3: This subtype exhibits severe fat loss from the limbs, trunk, and metabolic issues. It's ...
Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by the selective loss of adipose tissue. Its estimated prevalence is as low as 1 in 1 million. The deficiency of metabolically active adipose tissue is closely linked ...