Type 4 familial partial lipodystrophy combined with recurrent diabetic ketoacidosis: a case report
10.3760/cma.j.cn101070-20230408-00282
- VernacularTitle:儿童家族性部分脂肪营养不良综合征4型伴反复糖尿病酮症酸中毒1例
- Author:
Dandan ZHANG
1
;
Hongying WANG
;
Qing WANG
;
Haiying WU
;
Rongrong XIE
;
Fengyun WANG
;
Xiuli CHEN
;
Huirong WU
;
Hui SUN
;
Xiaoyan WANG
;
Mengjia SONG
;
Lili WANG
;
Linqi CHEN
;
Ting CHEN
Author Information
1. 苏州大学附属儿童医院内分泌遗传代谢科，苏州 215000
- Keywords:
Type 4 familial partial lipodystrophy;
Diabetic ketoacidosis;
PLIN1 gene;
SPINK1 gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(12):937-940
- CountryChina
- Language:Chinese
-
Abstract:
To analyze the clinical features and genetic variants of a child with type 4 familial partial lipodystrophy (FPLD4) and the initial manifestation of diabetes.The male patient with the age of 13 years and 5 months, and the diabetes course was about 3 years, the patient was admitted to Children′s Hospital of Soochow University on November 10, 2021(4 th hospitalization at the hospital), in the course of diabetes, the children repeatedly suffered from diabetes ketoacidosis, and lipid metabolism complications gradually emerged.The gene sequencing showed that the proband and his mother carried dual gene mutations of PLIN1 c. 1325delG(p.G442Afs*99) and SPINK1 c. 194+ 2T>C(p.? ). The PLIN1 gene was the causal gene of FPLD4.The mutations of c. 1325delG in the PLIN1 gene had not been previously reported.Based on the clinical phenotype, family history and genetic testing findings, the patient was diagnosed as FPLD4.In addition, the mutation of SPINK1 c. 194+ 2T>C(p.? ) might increase the risk of chronic pancreatitis.This case report enriched the clinical characteristics and genotype data of FPLD4.Gene sequencing assisted the accurate diagnosis of the type of diabetes.The effects of dual gene mutations on disease progression should be concerned, which were of great significance to develop treatment regimen and disease management.
