[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
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

646-652

Informations de copyright

Copyright © 2023 SPLF. Published by Elsevier Masson SAS. All rights reserved.

Auteurs

A Tebay (A)

Cabinet de pneumologie, Tétouan, Maroc.

K Bouti (K)

Service de pneumologie, CHU Mohammed VI, faculté de médecine et de pharmacie, université Abdelmalek Essaadi, Tanger, Maroc. Electronic address: khalidbouti@gmail.com.

S Hammi (S)

Service de pneumologie, CHU Mohammed VI, faculté de médecine et de pharmacie, université Abdelmalek Essaadi, Tanger, Maroc.

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Classifications MeSH