Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis
نویسندگان
چکیده
منابع مشابه
[Pulmonary alveolar microlithiasis].
The authors present two of their own observations where, based on the clinical course of the disease and the X-ray finding, they diagnosed the condition as pulmonary alveolar microlithiasis. They present a review of the literature as regards new views on the pathogenesis, diagnosis and therapy of the condition. They evaluate the contribution of scintigraphy 99 mTc, bronchial lavage and X-ray me...
متن کاملPulmonary alveolar microlithiasis.
Case report from a 12-years old russian girl with pulmonary alveolar microlithiasis. The diagnosis was confirmed by histologic examination from biopsy specimen of the lung. The differential diagnosis and the histomorphology are discussed.
متن کاملPulmonary alveolar microlithiasis.
We report a patient with pulmonary alveolar microlithiasis who was admitted to King Abdul-Aziz Hospital, Makkah, Kingdom of Saudi Arabia with chest pain, shortness of breath, dry cough and swelling of lower limbs. The patient underwent chest radiographs and CT scan showing multiple diffuse, almost symmetrical bilateral micronodular opacities of calcific density. The diagnosis was confirmed afte...
متن کاملPulmonary Alveolar Microlithiasis
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive condition that is often asymptomatic despite significant changes in chest imaging. Diagnosis is often made when patients become symptomatic in adulthood. There are still no proven treatments, but earlier diagnosis may allow for evaluation of preventative strategies that could improve outcome. It is an important diagnosis to c...
متن کاملExtensive pulmonary alveolar microlithiasis
Pulmonary alveolar microlithiasis is a rare pulmonary disorder that is caused by abnormal sodium-dependent phosphate co-transporter from the mutation of SLC34A2 gene, leading to accumulation of microliths in the alveoli. We report the extensive pulmonary alveolar microlithiasis in an elderly woman who presented with progressive dyspnea for 2 months. Chest radiograph revealed diffuse pulmonary c...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2006
ISSN: 0002-9297
DOI: 10.1086/508263