Different presentations of mevalonate kinase deficiency: A case series

Carlo De Pieri; Andrea Taddio; Antonella Insalaco; Egidio Barbi; Loredana Lepore; Alessandro Ventura; Alberto Tommasini

Different presentations of mevalonate kinase deficiency: A case series

Carlo De Pieri, Andrea Taddio, Antonella Insalaco, Egidio Barbi, Loredana Lepore, Alessandro Ventura, Alberto Tommasini

Research output: Contribution to journal › Article › peer-review

Abstract

Objective: We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. Methods: We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. Results: We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised. Conclusion: We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.

Original language	English
Pages (from-to)	437-442
Number of pages	6
Journal	Clinical and Experimental Rheumatology
Volume	33
Issue number	3
Publication status	Published - 2015

Keywords

Autoinflammatory syndromes
Hyper-IgD syndrome
Mevalonate kinase deficency
Periodic fever

ASJC Scopus subject areas

Rheumatology
Immunology
Immunology and Allergy

Cite this

@article{99ec8711249c4f40b975076c9eed5972,

title = "Different presentations of mevalonate kinase deficiency: A case series",

abstract = "Objective: We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. Methods: We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. Results: We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised. Conclusion: We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.",

keywords = "Autoinflammatory syndromes, Hyper-IgD syndrome, Mevalonate kinase deficency, Periodic fever",

author = "{De Pieri}, Carlo and Andrea Taddio and Antonella Insalaco and Egidio Barbi and Loredana Lepore and Alessandro Ventura and Alberto Tommasini",

year = "2015",

language = "English",

volume = "33",

pages = "437--442",

journal = "Clinical and Experimental Rheumatology",

issn = "0392-856X",

publisher = "Clinical and Experimental Rheumatology S.A.S.",

number = "3",

}

TY - JOUR

T1 - Different presentations of mevalonate kinase deficiency

T2 - A case series

AU - De Pieri, Carlo

AU - Taddio, Andrea

AU - Insalaco, Antonella

AU - Barbi, Egidio

AU - Lepore, Loredana

AU - Ventura, Alessandro

AU - Tommasini, Alberto

PY - 2015

Y1 - 2015

N2 - Objective: We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. Methods: We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. Results: We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised. Conclusion: We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.

AB - Objective: We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. Methods: We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. Results: We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised. Conclusion: We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.

KW - Autoinflammatory syndromes

KW - Hyper-IgD syndrome

KW - Mevalonate kinase deficency

KW - Periodic fever

UR - http://www.scopus.com/inward/record.url?scp=84939530589&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84939530589&partnerID=8YFLogxK

M3 - Article

C2 - 25897835

AN - SCOPUS:84939530589

VL - 33

SP - 437

EP - 442

JO - Clinical and Experimental Rheumatology

JF - Clinical and Experimental Rheumatology

SN - 0392-856X

IS - 3

ER -

Different presentations of mevalonate kinase deficiency: A case series

Abstract

Keywords

ASJC Scopus subject areas

Other files and links

Fingerprint

Cite this