SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: Report of four cases and review of literatures
نویسندگان
چکیده
منابع مشابه
A Case Report of Pulmonary Alveolar Microlithiasis
Pulmonary alveolar microlithiasis is a rare autosomal recessive disease characterized by the formation of calcium phosphate deposition in the alveoli. Although the disease most often occurs in children, most patients with the disease are diagnosed in adulthood due to the slow progression of the disease inside the lungs. In childhood, it often causes no symptoms, and changes in the lung parenchy...
متن کاملPulmonary Alveolar Microlithiasis: A Rare Case Report
Pulmonary alveolar microlithiasis is an uncommon infiltrative pulmonary disease characterized by deposition of microliths in the alveoli. We present the case of a young adult with complaints of shortness of breath on exertion. Chest radiograph showed innumerable small, dense nodules, diffusely involving both the lungs - predominantly in the lower zones. High-resolution CT scan illustrated wides...
متن کاملMicrolithiasis of Seminal Vesicles and Severe Oligoasthenospermia in Pulmonary Alveolar Microlithiasis (PAM): Report of An Unusual Sporadic Case
s:696:"Pulmonary alveolar microlithiasis (PAM) is classified as an elective dysmetabolic thesaurotic pneumoalveolitis and characterized by the presence within the alveoli of the lungs of myriad of tiny calculi. The classic presentation of the chest radiography is unmistakable with multiple small "sand-like" opacities diffusely involving both lung fields. We present a case of male infertility fo...
متن کاملPulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide.
Pulmonary alveolar microlithiasis (PAM) is a rare disease characterised by the widespread intra-alveolar accumulation of minute calculi called microliths. It is caused by mutation of the SLC34A2 gene encoding the type IIb sodium phosphate cotransporter in alveolar type II cells. The present study explores the epidemiological, familial, genetic, clinical, diagnostic, radiological and therapeutic...
متن کاملSLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction
We recently diagnosed a patient with pulmonary alveolar microlithiasis (PAM). Because loss-of-function mutations of the SLC34A2 gene are responsible for the development of PAM, we sought to sequence the SLC34A2 gene of the patient and his direct relatives, with a purpose to identify mutations that caused the PAM of the patient as well as the carriers of his family. We found a novel compound het...
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: Respiratory Medicine
سال: 2013
ISSN: 0954-6111
DOI: 10.1016/j.rmed.2012.10.016