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.
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease / C. Pietrasanta, F. Minoia, S. Torreggiani, A. Ronchi, M. Gattorno, S. Volpi, I. Ceccherini, F. Mosca, G. Filocamo, L. Pugni. - In: CLINICAL IMMUNOLOGY. - ISSN 1521-6616. - 205(2019 Aug), pp. 25-28.
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease
C. PietrasantaPrimo
;F. MinoiaSecondo
;S. Torreggiani;F. Mosca;G. Filocamo;L. Pugni
Ultimo
2019
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.File | Dimensione | Formato | |
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