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

Carlo Pietrasanta, Francesca Minoia, Sofia Torreggiani, Andrea Ronchi, Marco Gattorno, Stefano Volpi, Isabella Ceccherini, Fabio Mosca, Giovanni Filocamo, Lorenza Pugni

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)25-28
Number of pages4
JournalClinical Immunology
Volume205
DOIs
Publication statusPublished - Aug 2019

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