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Clin Immunol. 2019 May 13;205:25-28. doi: 10.1016/j.clim.2019.05.002. [Epub ahead of print]

When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease.

Author information

1
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, NICU, via della Commenda 12, 20122 Milan, Italy; University of Milan, Department of Clinical Sciences and Community Health, via della Commenda 12, 20122 Milan, Italy.
2
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Media Intensità di Cura, via della Commenda 9, 20122 Milan, Italy.
3
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, NICU, via della Commenda 12, 20122 Milan, Italy.
4
Centro Malattie Autoinfiammatorie e Immunodeficienze, IRCCS Istituto Giannina Gaslini, via Gerolamo Gaslini 5, 16147 Genova, Italy.
5
Centro Malattie Autoinfiammatorie e Immunodeficienze, IRCCS Istituto Giannina Gaslini, via Gerolamo Gaslini 5, 16147 Genova, Italy; DINOGMI, Università degli Studi di Genova, via Gerolamo Gaslini 5, 16147 Genova, Italy.
6
IRCCS Istituto Giannina Gaslini, UOC Genetica Medica, via Gerolamo Gaslini 5, 16147 Genova, Italy.
7
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, NICU, via della Commenda 12, 20122 Milan, Italy; University of Milan, Department of Clinical Sciences and Community Health, via della Commenda 12, 20122 Milan, Italy. Electronic address: lorenza.pugni@mangiagalli.it.

Abstract

Systemic inflammation in neonates is attributable to an infection in almost all cases. When inflammation persists, an autoinflammatory disease should be promptly suspected. We report here a case of mevalonate kinase deficiency (MKD) that presented at birth with mild symptoms and signs suggestive for a perinatal infection, together with the uncommon finding of interstitial lung disease. An extensive diagnostic work-up, performed after ineffective antibiotic treatment, demonstrated high levels of mevalonic acid in urine (7024 mM/M of creatinine, normal value <0.1). Next-generation sequencing showed a rare c.709A > T (p.T237S) homozygous mutation in the MVK gene, consistent with MKD. Treatment with anakinra led to a prompt resolution of symptoms and a sharp drop in serum inflammatory markers. The patient is now six months-old, currently undergoing evaluation for hematopoietic stem-cell transplantation. To our knowledge, this is the first case of MKD presenting within the first week of life with interstitial lung disease.

KEYWORDS:

Autoinflammatory disease; Hyper-IgD syndrome; IL-1β; Mevalonic aciduria; Neonatal infection; Periodic fever

PMID:
31096039
DOI:
10.1016/j.clim.2019.05.002

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