摘要目的 分析家族局部性脂质营养不良3型(FPLD3)合并复发性胰腺炎的临床特征及其与过氧化物酶体增殖物激活受体γ(PPARG)基因突变的关系.方法 回顾性分析南京医科大学附属儿童医院收治的1例7岁5月(初次入院)FPLD3合并复发性胰腺炎患儿的临床特征,采集患儿及父母外周血样,采用高能量测序技术筛选与脂类及糖代谢疾病相关的基因,行PPARG基因突变检测.检索国内外文献,分析FPLD3合并复发性胰腺炎的临床特征与PPARG基因突变位点.结果 本例患儿因发现"双侧肘、膝关节伸侧及臀部粟粒样脂肪瘤近1月"入院,实验室检查示三酰甘油高达26 mmol/L,并反复发生胰腺炎3次.测序显示患儿PPARG基因第3外显子存在1处杂合突变,为c.70G>A,氨基酸突变为p.24,V>I,确诊为FPLD3型.国内尚无FPLD3型患儿病例报道,国外有2例FPLD3型报道,均为女性,临床主要表现为四肢和臀肌的脂肪萎缩以及面部、颈部和躯干脂肪储存增多.1例存在PPARG无义突变(p.355,Y>X),1例存在PPARG错义突变,即c.1270G>A(E5)(p.424,D>N).结论FPLD3相关基因PPARG基因c.70G>A(p.24,V>I)错义突变为有害突变,本例FPLD3型合并复发性胰腺炎是国内首次发现的新病例.

abstractsObjective To analyze the clinical features of familial partial lipodystrophy type 3 (FPLD3) with recurrent pancreatitis and its relationship with peroxisome proliferator-activated receptor gamma ( PPARG) gene mutation. Methods A retrospective analysis of the clinical features of a 7 years and 5 months old child with FPLD3 ( first admission ) complicated with recurrent pancreatitis was conducted. Peripheral blood samples from the child and parents were collected and high-energy sequencing technology was used to screen genes related to lipid metabolism and glucose metabolism diseases. PPARG gene mutation detection was performed. Literatures were searched to analyze the clinical features and PPARG gene mutation sites of FPLD3 with recurrent pancreatitis. Results In this case, the patient was admitted to the hospital because of bilateral elbow, knee joint extension and hip miliary lipoma in recent month. The laboratory indicators indicated that the triacylglycerol was increased to 26 mmol/L, and pancreatitis appeared repeatedly three times. Genetic sequencing showed that there was a heterozygous mutation c. 70G>A ( p. 24, amino acid V>I) in the third exon of PPARG gene, and the child was diagnosed as FPLD3. There were no reports of FPLD3 children in China. There were 2 cases of FPLD3 reported abroad. All cases were girls, and the main clinical manifestations include fat atrophy of the extremities and glutes and increased fat storage in the face, neck and trunk. One had a PPARG nonsense mutation ( p. 355, Y > X), and the other had a PPARG missense mutation,c.1270G >A(E5) (p. 424, D >N). Conclusions FPLD3 associated gene PPARG missense mutation c. 70G > A ( E3 ) ( p. 24, V > I ) was harmful. This case with FPLD3 combined with recurrent pancreatitis was the first reported in China so far.