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. Pietrasanta
Primo
;
F. Minoia
Secondo
;
S. Torreggiani;F. Mosca;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.
Autoinflammatory disease; Hyper-IgD syndrome; IL-1β; Mevalonic aciduria; Neonatal infection; Periodic fever
Settore MED/38 - Pediatria Generale e Specialistica
ago-2019
Article (author)
File in questo prodotto:
File Dimensione Formato  
Pietrasanta2019_preprint.pdf

Open Access dal 02/08/2020

Tipologia: Post-print, accepted manuscript ecc. (versione accettata dall'editore)
Dimensione 1.57 MB
Formato Adobe PDF
1.57 MB Adobe PDF Visualizza/Apri
1-s2.0-S1521661619301652-main.pdf

accesso riservato

Tipologia: Publisher's version/PDF
Dimensione 859.84 kB
Formato Adobe PDF
859.84 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/666333
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 11
  • ???jsp.display-item.citation.isi??? 8
social impact