A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis
نویسندگان
چکیده
منابع مشابه
SLC34A2 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 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 کاملA 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 کاملHypertrophic pulmonary osteoarthropathy in a patient with pulmonary alveolar microlithiasis.
Hypertrophic pulmonary osteoarthropathy occurred in a patient with proved pulmonary alveolar microlithiasis, an association not previously reported. Pulmonary alveolar microlithiasis is an uncommon disorder of unknown aetiology, characterised by microliths within the alveoli. Diagnosis is usually made from the radiographic appearance."2 Finger clubbing has been reported in pulmonary alveolar mi...
متن کاملPregnancy in a patient with severe pulmonary alveolar microlithiasis.
Pulmonary alveolar microlithiasis (PAM) is a rare disease that affects both lungs. It is characterized by the presence of small calculi (calcium phosphate) within the alveolar spaces. We report the case of a 26-year-old female whose diagnosis was based on characteristic findings on chest X-rays and high-resolution computed tomography scans. The patient, 28 weeks pregnant, was rehospitalized 10 ...
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: Human Genome Variation
سال: 2017
ISSN: 2054-345X
DOI: 10.1038/hgv.2016.47