When neonatal inflammation does not mean infection: An early-onset mevalonate kinase deficiency with interstitial lung disease.
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.
PMID: 31096039 [PubMed - as supplied by publisher]
Source: Clinical Immunology - Category: Allergy & Immunology Authors: Pietrasanta C, Minoia F, Torreggiani S, Ronchi A, Gattorno M, Volpi S, Ceccherini I, Mosca F, Filocamo G, Pugni L Tags: Clin Immunol Source Type: research
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