Wu Chao-Jun, Liu Hao, Tu Li-Juan, Hu Jiong-Yu
Basic Medical College, Army Medical University, Chongqing 400038, China.
Department of Endocrinology, Rare Disease Center, The First Affiliated Hospital of Army Medical University, Chongqing 400038, China.
World J Diabetes. 2024 Dec 15;15(12):2360-2369. doi: 10.4239/wjd.v15.i12.2360.
Familial partial lipodystrophy disease (FPLD) is a collection of rare genetic diseases featuring partial loss of adipose tissue. However, metabolic difficulties, such as severe insulin resistance, diabetes, hypertriglyceridemia, and hypertension frequently occur alongside adipose tissue loss, making it susceptible to misdiagnosis and delaying effective treatment. Numerous genes are implicated in the occurrence of FPLD, and genetic testing has been for conditions linked to single gene mutation related to FPLD. Reviewing recent reports, treatment of the disease is limited to preventing and improving complications in patients.
In 2017, a 31-year-old woman with diabetes, hypertension and hypertriglyceridemia was hospitalized. We identified a mutation in her peroxisome proliferator-activated receptor gamma () gene, Y151C (p.Tyr151Cys), which results in a nucleotide substitution residue 452 in the DNA-binding domain (DBD) of . The unaffected family member did not carry this mutation. Pioglitazone, a agonist, improved the patient's responsiveness to hypoglycemic and antihypertensive therapy. After one year of treatment in our hospital, the fasting blood glucose and glycosylated hemoglobin of the patient were close to normal.
We report a rare mutation, Y151C, which is located in the DBD of and leads to FPLD, and the preferred agent is agonists. We then summarized clinical phenotypic characteristics of FPLD3 caused by gene mutations, and clarified the relationship between different mutations of gene and the clinical manifestations of this type of FPLD. Additionally, current treatments for FPLD caused by mutations are reviewed.
家族性部分脂肪营养不良症（FPLD）是一组罕见的遗传性疾病，其特征是脂肪组织部分缺失。然而，代谢困难，如严重胰岛素抵抗、糖尿病、高甘油三酯血症和高血压，经常与脂肪组织缺失同时出现，这使得该病易被误诊并延误有效治疗。许多基因与FPLD的发生有关，基因检测已用于与FPLD相关的单基因突变情况。回顾近期报告，该病的治疗仅限于预防和改善患者的并发症。
2017年，一名患有糖尿病、高血压和高甘油三酯血症的31岁女性住院。我们在她的过氧化物酶体增殖物激活受体γ（PPARG）基因中发现了一个Y151C（p.Tyr151Cys）突变，该突变导致PPARG DNA结合域（DBD）中第452位核苷酸替换。未受影响的家庭成员未携带此突变。吡格列酮，一种PPARG激动剂，改善了患者对降糖和降压治疗的反应性。在我院治疗一年后，患者的空腹血糖和糖化血红蛋白接近正常。
我们报告了一种罕见的PPARG突变，Y151C，其位于PPARG的DBD中并导致FPLD，首选药物是PPARG激动剂。然后我们总结了由PPARG基因突变引起的FPLD3的临床表型特征，并阐明了PPARG基因不同突变与这类FPLD临床表现之间的关系。此外，还综述了由PPARG突变引起的FPLD的当前治疗方法。
