Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa

Saif Al Yaarubi,Afaf Alsagheir,Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema,Hussain Alsaffar,Mohammed Al Dubayee,Awad Alshahrani,Yasmine Abdelmeguid, Omneya M. Omar,Najya Attia,Elham Al Amiri,Jamal Al Jubeh, Albandari Algethami,Haya Alkhayyat, Azad Haleem, Mouza Al Yahyaei, Ines Khochtali, Saleha Babli, Ahmed Nugud,Nandu Thalange, Sarah Albalushi, Nadia Hergli,Asma Deeb,Majid Alfadhel

Orphanet Journal of Rare Diseases(2024)

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摘要
Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have analyzed the disease characteristics of the largest CGL cohort from the Middle East and North Africa (MENA) who have not received lipodystrophy-specific treatment. CGL was diagnosed clinically by treating physicians through physical assessment and supported by genetic analysis, fat loss patterns, family history, and the presence of parental consanguinity. Data were obtained at the time of patient diagnosis and during leptin-replacement naïve follow-up visits as permitted by available medical records. Data from 43 patients with CGL (37 females, 86
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关键词
Congenital generalized lipodystrophy,HbA1c,Generalized lipodystrophy,Metabolic disease,Organ system abnormalities,Middle East,North Africa,Triglycerides
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