一例胰腺纤维钙化性糖尿病的诊疗和基因检测分析

doi:10.16288/j.yczz.22-210

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Hereditas(Beijing) ›› 2022, Vol. 44 ›› Issue (11): 1079-1086.doi: 10.16288/j.yczz.22-210

• Genetic Resource • Previous Articles

Diagnosis, treatment and genetic analysis of a case with fibrocalculous pancreatic diabetes

Min Shen¹(), Yong Gu¹, Changjiang Ying², Mei Zhang¹, Tao Yang¹, Yang Chen¹()

1. Department of Endocrinology, First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China
2. Department of Endocrinology, The Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China

Received:2022-06-21 Revised:2022-09-01 Online:2022-11-20 Published:2022-09-07
Contact: Chen Yang E-mail:drshenmin@163.com;drchenyang@njmu.edu.cn
Supported by:
the National Natural Science Foundation of China(81900708);Postgraduate Research & Practice Innovation Program of Jiangsu Province(JX10213850);Sinocare Diabetes Foundation(2021SD02)

Abstract

Abstract:

Fibrocalculous pancreatic diabetes (FCPD) is a rare type of diabetes mellitus with both impaired endocrine and exocrine functions of the pancreas. In this report, we presented a case with FCPD, who had recurrent abdominal pain since early childhood and was diagnosed with diabetes mellitus at the age of 25, with pancreatic calcification on abdominal computed tomography (CT) scan. Genetic testing revealed two homozygous mutations in the SPINK1 gene (c.194+2T>C and -191-24G>A). Both the homozygous variants were shared by his unaffected sibling, and the heterozygous variants had been verified on their unaffected parents. Based on this case and 90 other reported cases in China, we retrospectively analyzed the clinical characteristics of FCPD. It is recommended that unclassified diabetic patients with a lean body type, no ketosis tendency but poor islet function should be considered for the possibility of FCPD. Pancreatic imaging and genetic testing may be beneficial for the differential diagnosis. This study improves our understanding and management of FCPD, and also enriches clinical evidence for subsequent research on pathogenic mechanisms and drug target screening.

Key words: pancreatic fibrocalcification, diabetes, SPINK1, differential diagnosis

Min Shen, Yong Gu, Changjiang Ying, Mei Zhang, Tao Yang, Yang Chen. Diagnosis, treatment and genetic analysis of a case with fibrocalculous pancreatic diabetes[J]. Hereditas(Beijing), 2022, 44(11): 1079-1086.

Figures/Tables 6

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References 30

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项目	患者父亲	患者母亲	患者弟弟
年龄	50	52	16
体重指数(kg/m²)	26.2	19.9	29.39
空腹血糖(mmol/L)	5.29	5.11	4.82
餐后1 h血糖(mmol/L)	-	9.26	8.26
餐后2 h血糖(mmol/L)	8.78	9.2	6.53
空腹胰岛素(pmol/L)	70.3	36.8	72
餐后1 h胰岛素(pmol/L)	-	403.4	404.3
餐后2 h胰岛素(pmol/L)	834.6	312.8	678.5
空腹C肽(ng/mL)	2.09	1.8	2.04
餐后1 h C肽(ng/mL)	-	9.47	8.37
餐后2 h C肽(ng/mL)	14.68	11.39	11.21
持续性腹痛	无	无	无
胰腺影像学检查	-	胰腺未见异常	胰腺未见异常

	国内报道	国外报道	本例患者
发病率	<0.001%	0.019%~1.6%	-
地区分布	散在分布，亚热带和北温带为主	热带为主	中国北温带
年龄	16~67	10~30岁多见	25
性别(男%)	64%	43%~70%	男
BMI (kg/m²)	多消瘦	多消瘦	17.17
木薯食用史	20%	常见	否
降糖治疗	胰岛素治疗为主	胰岛素治疗为主	口服药
误诊	>20%	>85%	否
脂肪泻(%)	<30%	24%	否
慢性腹痛(%)	50%	33%	是
胰岛自身抗体	1例GAD阳性	GAD阳性：7.0% ICA阳性：6.3%	IAA阳性后转阴
基因	WFS1基因2号外显子杂合突变： c.139C>T	HLA-DQ9 (A0201-B0303)，DQB1； SPINK1基因最常见	HLA-A2402;3201, DRB10701;1301，SPINK1基因纯合突变：c.194+2T>C与-191-24G>A

Diagnosis, treatment and genetic analysis of a case with fibrocalculous pancreatic diabetes

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