[Pulmonary alveolar microlithiasis: A report on two familial cases in Morocco].
Microlithiase alvéolaire pulmonaire : à propos de deux cas familiaux au Maroc.
Calcifications pulmonaires
Calcified microliths
Diffuse bilateral calcifications
Microlithes
Microlithiase alvéolaire
Pulmonary alveolar microlithiasis
Journal
Revue des maladies respiratoires
ISSN: 1776-2588
Titre abrégé: Rev Mal Respir
Pays: France
ID NLM: 8408032
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
received:
07
05
2022
accepted:
02
06
2023
medline:
11
9
2023
pubmed:
6
8
2023
entrez:
5
8
2023
Statut:
ppublish
Résumé
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease. The majority of patients are asymptomatic. The disease is often diagnosed on routine radiological examination. We report two familial cases of PAM. A 17-year-old girl with a chest X-ray showing an alveolar syndrome, especially on the right side, a bronchointerstitial syndrome, and diffuse calcifications. The thoracic CT scan showed calcified micro- and macronodules with pleural and pericardial calcifications. Respiratory function tests showed restrictive syndrome and normal blood gas values suggestive if PAM, which was confirmed by the presence of microliths in bronchoalveolar lavage (BAL). Family investigation led to chest radiograph of a 14-year-old sister who was asymptomatic but presented with an aspect of "sandstorm" calcifications. PAM is known to be radio-clinically dissociative. In typical cases, radiology can suggest the diagnosis, which is often confirmed by SLC34A2 mutation or microliths in BAL or sputum. The prognosis is compromised in the long-term. The only effective treatment nowadays is lung transplantation.
Identifiants
pubmed: 37543507
pii: S0761-8425(23)00202-4
doi: 10.1016/j.rmr.2023.06.006
pii:
doi:
Types de publication
Case Reports
English Abstract
Journal Article
Langues
fre
Sous-ensembles de citation
IM
Pagination
646-652Informations de copyright
Copyright © 2023 SPLF. Published by Elsevier Masson SAS. All rights reserved.