Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings

被引：4

作者：

Correa, Alec Reginald Errol ^{[1
]}

Gupta, Neerja ^{[1
]}

Bagri, Narendra ^{[1
]}

Vignesh, Pandiarajan ^{[2
]}

Alam, Seema ^{[3
]}

Yamaguchi, Seiji ^{[4
]}

机构：

[1] All India Inst Med Sci, New Delhi, India

[2] Postgrad Inst Med Educ & Res, Chandigarh, India

[3] Inst Liver & Biliary Sci, New Delhi, India

[4] Shimane Univ, Sch Med, 89-1 En Ya Cho, Izumo, Shimane, Japan

来源：

INDIAN PEDIATRICS | 2020年 / 57卷 / 02期

关键词：

Hyper-IgD syndrome; Pyrexia of unknown origin; Neonatal hepatitis; Periodic fever;

D O I：

10.1007/s13312-020-1742-9

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in MVK. We report two siblings with MKD, presenting with recurrent febrile illnesses, detected to have compound heterozygous variants in MVK. MKD mimics common pediatric conditions and should be considered as a differential diagnosis.

引用

页码：180 / 181

页数：2

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