An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment-Reference-Cited by-同舟云学术

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment

Published:2021-10-25 Issue: Volume: Page:1-6
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Koç Yekedüz Merve,Doğulu Neslihan,Öncül Ümmühan^ORCID,Köse Engin^ORCID,Ceylaner Serdar,Eminoğlu Fatma Tuba

Abstract

Mevalonate kinase deficiency (MKD) is a periodic fever syndrome. Nonsteroidal anti-inflammatory drugs, corticosteroids, and anakinra are the most common treatments. However, colchicine is considered insufficient in disease control. In this case report, we present an 8-month-old infant with an atypical presentation of MKD. She had recurrent fever episodes, diarrhea, and lethargy. Elevated mevalonic acid was not detected in the urine. However, the genetic investigation showed a novel pathogenic heterozygous c.925G>C (p.Gly309Arg) variant and a heterozygous c.1129G>A (p.Val377Ile) mutation in the <i>MVK</i> gene. The patient was treated with colchicine for 8 months. During treatment, no further fever episode had been observed. It should be kept in mind that mevalonic acid excretion may not be present in the urine with mild MKD. Colchicine may be a reasonable option in mild MKD patients for a longer duration of treatment due to favorable adverse event profiles.

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Reference11 articles.

1. Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G, et al. Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics. 2011;128:e152–9.

2. Berody S, Galeotti C, Koné-Paut I, Piram M. A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency. Joint Bone Spine. 2015;82:240–4.

3. de Klerk JB, Duran M, Dorland L, Brouwers HA, Bruinvis L, Ketting D. A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis. J Inherit Metab Dis. 1988;11(Suppl 2):233–6.

4. Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006;1:13.

5. Haraldsson A, Weemaes CM, De Boer AW, Bakkeren JA, Stoelinga GB. Immunological studies in the hyper-immunoglobulin D syndrome. J Clin Immunol. 1992;12:424–8.