Dunnigan familial partial lipodystrophy

Familial Partial Lipodystrophy, Dunnigan Type
Autosomal dominant is the manner of inheritance of this condition

Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region. FPLD recapitulates the main metabolic attributes of the insulin resistance syndrome, including central obesity, hyperinsulinemia, glucose intolerance and diabetes[1] usually type 2,[2] dyslipidemia, hypertension,[1] and early endpoints of atherosclerosis.[2] It can also result in hepatic steatosis.[3] FPLD results from mutations in LMNA gene, which is the gene that encodes nuclear lamins A and C.[1] The condition is named after Scottish doctor Matthew Dunnigan, who pioneered early study into the disorder. [4]

See also

References

  1. ^ a b c Hegele, RA (December 2000). "Familial partial lipodystrophy: A monogenic form of the insulin resistance syndrome". Molecular Genetics and Metabolism. 71 (4): 539–44. doi:10.1006/mgme.2000.3092. PMID 11136544.
  2. ^ a b Hegele, RA (September 2000). "Insulin resistance in human partial lipodystrophy". Current Atherosclerosis Reports. 2 (5): 397–404. doi:10.1007/s11883-000-0078-0. PMID 11122771. S2CID 38167209.
  3. ^ Ludtke, A; Genschel, J; Brabant, G; Bauditz, J; et al. (October 2005). "Hepatic steatosis in Dunnigan-type familial partial lipodystrophy". The American Journal of Gastroenterology. 100 (10): 2218–24. doi:10.1111/j.1572-0241.2005.00234.x. PMID 16181372. S2CID 23356132.
  4. ^ Köbberling, J; Dunnigan, M (1986). "Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state". Journal of Medical Genetics. 23 (2): 120–127. doi:10.1136/jmg.23.2.120. PMC 1049565. PMID 3712389.







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