[MIM 265 100]

(Puhr disease, Malpighi disease)

Rare. Autosomal recessive disease due to a loss of function mutation of the SLC34A2 gene (4p15.2) coding for the sodium/phosphate IIb cotransporter channel expressed by type II pneumocytes. Characterized by the formation and deposition of phosphocalcium microliths in the pulmonary alveoli. The disease can be diagnosed at any age, from early childhood to the last years of life; about 25 % of cases involve children under 18 years of age. The majority of patients remain asymptomatic for a long time, the disease being discovered fortuitously during a chest x-ray. But the evolution towards pulmonary fibrosis, pulmonary hypertension and chronic respiratory failure is inevitable with dyspnea, cyanosis, digital clubbing and right cardiac involvement.

Anesthetic implications:

SpO2 at room air; chest X-Ray; echocardiography.

References :

-        Prakash UB.
Pulmonary alveolar microlithiasis. 
Semin Respir Crit Care Med. 2002;23:103–13.

Updated: October 2021