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

共 50 条

[11] Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever) - different faces with separate treatments: two cases and review of the literature
Gencpinar, Pinar
Makay, Balahan B.
Gattorno, Marco
Caroli, Francesco
Unsal, Erbil
TURKISH JOURNAL OF PEDIATRICS, 2012, 54 (06) : 641 - 644
[12] MEVALONATE KINASE DEFICIENCY: A CAUSE OF ISCHEMIC STROKE RESULTING FROM INFLAMMATION
Blais, J.
Bonneville-Roussy, D.
Elfassy, H. L.
Lanthier, S.
INTERNATIONAL JOURNAL OF STROKE, 2022, 17 (3_SUPPL) : 256 - 257
[13] Hyperimmunoglobulinemia and periodic fever syndrome due to mutations in the gene mevalonate kinase (MVK).
Poll-The, BT
Houten, SM
Frenkel, J
Kuis, W
Duran, M
de Koning, TJ
van Royen-Kerkhof, A
Romeijn, GJ
Dorland, L
Rijkers, GT
Waterham, HR
Wanders, RJA
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A95 - A95
[14] Mevalonate kinase deficiency and inflammation
Frenkel, J
Kuijk, LM
Schellens, IM
Mandey, SH
Rijkers, GT
Waterham, HR
Kuis, W
ANNALS OF THE RHEUMATIC DISEASES, 2004, 63 : 3 - 4
[15] Mevalonate kinase deficiency and autoinflammation
Hager, Elizabeth J.
Gibson, K. Michael
NEW ENGLAND JOURNAL OF MEDICINE, 2007, 357 (18): : 1871 - 1872
[16] Mevalonate kinase deficiency nomenclature
Stoffels, Monique
van der Meer, Jos W. M.
Simon, Anna
RHEUMATOLOGY INTERNATIONAL, 2014, 34 (02) : 295 - 296
[17] Mevalonate kinase deficiency in 2016
Galeotti, C.
Georgin-Lavialle, S.
Sarrabay, G.
Touitou, I.
Kone-Paut, I.
REVUE DE MEDECINE INTERNE, 2018, 39 (04): : 265 - 270
[18] Mevalonate kinase deficiency nomenclature
Monique Stoffels
Jos W. M. van der Meer
Anna Simon
Rheumatology International, 2014, 34 : 295 - 296
[19] SEVERE PHENOTYPE OF MEVALONATE KINASE DEFICIENCY AS A CAUSE OF FETAL ONSET HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
Morimoto, Akira
Okuno, Yusuke
Maruyama, Asami
Takahashi, Naoto
Yasumi, Takahiro
Kojima, Seiji
Ishii, Eiichi
PEDIATRIC BLOOD & CANCER, 2015, 62 : S12 - S12
[20] FEVER INDUCES ECTOPIC ACTIVATION OF SMALL GTPASES IN THE AUTOINFLAMMATORY DISORDER MEVALONATE KINASE DEFICIENCY
Waterham, Hans R.
MOLECULAR GENETICS AND METABOLISM, 2010, 99 (03) : 236 - 237

← 1 2 3 4 5 →