Pulmonary Alveolar Microlithiasis

Hagiwara, Koichi; Johkoh, Takeshi; Tachibana, T

doi:10.1007/978-1-59745-384-4_15

Cited by 8 publications

(5 citation statements)

References 40 publications

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“…Although the etiology of PAM was unclear, the incidence of the familial occurrence of the disease is high, ranging from about 30% to 50% of all the cases reported. PAM often affects horizontal siblings from inbred families, suggesting that this is an autosomal recessive disease ( Hagiwara and Tachibana, 2010 ). Despite the versatile mutation symbols, homozygous mutation is the most common genotype and protein truncation is the predominant form of these mutations.…”

Section: Discussionmentioning

confidence: 99%

SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction

Wang¹,

Yin²,

Wu³

et al. 2014

Meta Gene

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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 heterozygous mutation of the SLC34A2 gene in this patient, which were the mutations of c.1363T > C (p. Y455H) in exon 12 and c.910A > T (p. K304X) in exon 8. Computational prediction of three-dimensional (3D) structures of the mutants revealed that the Y455H mutation resulted in a formation of irregular coils in the trans-membrane domain and the K304X mutation resulted in protein truncation. Our study suggested that sequencing of the SLC34A2 gene together with a computational prediction of the 3D structures of the mutated proteins may be useful in PAM diagnosis and prognosis.

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Section: Discussionmentioning

confidence: 99%

SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction

Wang¹,

Yin²,

Wu³

et al. 2014

Meta Gene

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“…The nationality of origin was reported in all cases, the sex in 934, the age at diagnosis in 904 and negative family history in 641. 66 cases were not documented individually but were cited by the authors in national case series [9,10].…”

Section: World Casesmentioning

confidence: 99%

Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide

et al. 2015

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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 aspects with the aim of contributing to a better understanding of this uncommon disease.We searched articles on PAM published up to December 2014 and 544 papers were found, accounting for 1022 cases.PAM is present in all continents and in many nations, in particular in Turkey, China, Japan, India, Italy and the USA. Familiality is frequent. The clinical course is not uniform and the causes of this clinical variability seem to be largely nongenetic. The optimal diagnostic procedure is the association of chest high-resolution computed tomography (HRCT) with bronchoalveolar lavage, but a chest radiograph may suffice in families in which a case has already been diagnosed. Moreover, chest radiography and HRCT allow the classification of the evolutionary phase of the disease and its severity. At present lung transplantation is the only effective therapy. However, better knowledge of the gene responsible offers hope for new therapies. @ERSpublications Familial, genetic, clinical, radiological and therapeutic aspects of pulmonary alveolar microlithiasis epidemiology http://ow.ly/St3Mw

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“…In later stages, as the disease progresses, the microliths occupy a large number of alveoli and the lungs become hardened, causing deterioration of mechanical ventilatory disorders as well as perfusion and ultimately resulting in hypoxemia, increased arterial carbon dioxide levels, pulmonary hypertension, and cor pulmonale. 1,2,12,15,31 Routine blood test findings, including serum calcium concentration and hepatic, renal, and parathyroid functions, remain normal in patients with PAM. Marked elevations in the serum concentrations of surfactant proteins A and D have been recently reported; these proteins are also elevated in patients with pulmonary alveolar proteinosis and pulmonary fibrosis.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Pulmonary alveolar microlithiasis. State-of-the-art review

Francisco

Silva

Hochhegger

et al. 2013

Respiratory Medicine

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Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disease characterized by calcifications within the alveoli. Mutations in the SLC34A2 gene, which encodes a type IIb sodium-phosphate cotransporter, are responsible for this disease, leading to intra-alveolar accumulation of phosphate that favors the formation of microliths. The hallmark of this disorder is clinical-radiological dissociation, with typical imaging findings that correlate well with specific pathological findings. The long-term prognosis is poor and no treatment has been discovered to date. The aim of this review is to describe the main pathological, clinical, and imaging aspects of PAM, ranging from its genetic basis to treatment.

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Pulmonary Alveolar Microlithiasis

Cited by 8 publications

References 40 publications

SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction

SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction

Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide

Pulmonary alveolar microlithiasis. State-of-the-art review

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