Family history in the diagnosis of monogenic diabetes "leads and misleads"

被引：0

作者：

Colom, Cristina ^{[1
]}

Oriola, Josep ^{[2
]}

Martinez, Silvia ^{[3
]}

Blanco-Vaca, Francisco ^{[3
,4
,5
]}

Casamitjana, Roser ^{[2
]}

Corcoy, Rosa ^{[1
,6
,7
]}

机构：

[1] Hosp Santa Creu & Sant Pau, Serv Endocrinol & Nutr, Barcelona, Spain

[2] Hosp Clin & Univ, Inst Invest Biomed August Pi & Sunyer, Serv Bioquim & Genet Mol CDB, Barcelona, Spain

[3] Hosp Santa Creu & Sant Pau, Serv Bioquim Clin, Barcelona, Spain

[4] Univ Autonoma Barcelona, Dept Bioquim & Biol Mol, Madrid, Spain

[5] Inst Salud Carlos III, CIBERDEM, Madrid, Spain

[6] Univ Autonoma Barcelona, Dept Med, Madrid, Spain

[7] Inst Salud Carlos III, CIBER Bioengn Biomat & Nanotechnol, Madrid, Spain

来源：

HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM | 2013年 / 12卷 / 03期

关键词：

Family history; Glucokinase; Hepatic nuclear factor-1 beta; Monogenic diabetes; MUTATIONS; YOUNG; MODY; TWINS; GENE; MELLITUS; SPECTRUM; COHORT;

D O I：

10.1007/BF03401313

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Always granting that de novo mutations are possible, family history and biological characteristics are nonetheless crucial for the diagnosis of monogenic diabetes. We report here the case of two patients with monogenic diabetes in which the initial family history misled the diagnostic work-up and did not support the diagnosis. Family history details changed substantially after the molecular diagnosis was established.

引用

页码：466 / 469

页数：4

共 18 条

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