Alveolar microlithiasis

August 12, 2017 17:51 | Genetic Diseases

Alveolar microlithiasis is a rare disorder inherited in an autosomal recessive manner and is characterized by the formation of pulmonary alveoli, tiny stones.There are reports of microlithiasis in children whose parents were in consanguinity.

is believed that the formation of stones in the alveoli of the alveolar disorders associated with the production fluid, as well as carbonic acid metabolism disorder.Described combination of alveolar microlithiasis with metabolic disorders (kidney stones, gout) and developmental disabilities.

The disease occurs in all age groups.About a quarter of patients with alveolar microlithiasis detected in childhood.There are cases of alveolar microlithiasis in newborns, allowing you to think about the possibility of congenital alveolar microformations nature.

diverse clinical picture of the disease.For alveolar microlithiasis is characterized by a mismatch between the scant clinical and radiographic changes.Clinical symptoms may be absent, and the disease is diagnosed at

random X-ray examination.Sometimes patients are concerned dyspnea, appear bluish coloration of the skin and mucous membranes, reduced tolerance to stress.As the progression of the process of joining the signs of chronic inflammation of the lungs: cough, phlegm.Marked thickening of the nail phalanges on the type of drum sticks.

crucial for diagnosis is an X-ray examination.On chest X-ray revealed small, scattered throughout the lung tissue of shading areas are located mainly in the lower and middle parts of the lungs.These symptoms are often mistaken for miliary tuberculosis.

With progressive course of the disease, patients are killed by the phenomenon of cardiopulmonary failure, pulmonary heart.For diagnostic purposes sometimes holds an open lung biopsy.When lung tissue study, the presence of stones found in 50-75% of the alveoli.Calcifications are found in the lumen of the alveoli, but sometimes placed in the lumen and the wall of the bronchi.

Treatment is aimed only at eliminating the clinical symptoms.