Tricuspid valve calcification in familial pulmonary alveolar microlithiasis: A case report

Samrah, Shaher; Shraideh, Hanouf; Rawashdeh, Sukiana; Khassawneh, Basheer

doi:10.1016/j.amsu.2020.05.039

Cited by 4 publications

(14 citation statements)

References 19 publications

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“…PAM is a rare hereditary parenchymal lung disease characterized by the accumulation of calcium phosphate microliths in the alveoli [1][2][3][4][5] . A mutation in the SLC34A2 (solute carrier family 34 member 2) gene located on chromosome 4p15.2 produces a defective sodium-phosphate cotransporter in alveolar epithelial type 2 cells, making these cells unable to clear phosphorus released during recycling of surfactant [1][2][3][4][5] . Fewer than 1200 such cases have been reported globally [2,3,5] .…”

Section: Discussionmentioning

confidence: 99%

“…A mutation in the SLC34A2 (solute carrier family 34 member 2) gene located on chromosome 4p15.2 produces a defective sodium-phosphate cotransporter in alveolar epithelial type 2 cells, making these cells unable to clear phosphorus released during recycling of surfactant [1][2][3][4][5] . Fewer than 1200 such cases have been reported globally [2,3,5] . This disease is typically diagnosed between 30 and 50 years of age [3,4] and shows a slight female predominance, commonly in Asian and European populations [5] .…”

Section: Discussionmentioning

confidence: 99%

“…Fewer than 1200 such cases have been reported globally [2,3,5] . This disease is typically diagnosed between 30 and 50 years of age [3,4] and shows a slight female predominance, commonly in Asian and European populations [5] . Patients with PAM may initially be asymptomatic and are discovered incidentally after careful radiological examination for another medical purpose [2][3][4][5] .…”

Section: Discussionmentioning

confidence: 99%

“…This disease is typically diagnosed between 30 and 50 years of age [3,4] and shows a slight female predominance, commonly in Asian and European populations [5] . Patients with PAM may initially be asymptomatic and are discovered incidentally after careful radiological examination for another medical purpose [2][3][4][5] . In symptomatic patients, shortness of breath is the most common symptom, as in the present case, followed by a dry cough, chest pain and asthenia [3,4] .…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Diagnostic Images of Pulmonary Alveolar Microlithiasis: A Rare, Autosomal Recessive Disorder

Cruz¹,

Batista

Pereira

et al. 2022

European Journal of Case Reports in Internal Medicine

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Pulmonary alveolar microlithiasis (PAM) is a genetic lung disorder that is characterized by the accumulation of calcium phosphate deposits in the alveolar spaces of the lung. PAM is discovered incidentally on radiographs performed for other purposes, and the typical disease course is characterized by slowly progressive respiratory failure over decades. Treatment remains supportive. A 62-year-old woman presented in the emergency department with dyspnoea and fatigue. On physical examination she had crackles on pulmonary auscultation and digital clubbing. A CT scan of the chest showed multiple high-density areas throughout the lung parenchyma, suggesting the presence of alveolar microlithiasis. This CT finding is the typical radiological presentation of PAM, while the hallmark presentation is clinical–radiological dissociation.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Diagnostic Images of Pulmonary Alveolar Microlithiasis: A Rare, Autosomal Recessive Disorder

Cruz¹,

Batista

Pereira

et al. 2022

European Journal of Case Reports in Internal Medicine

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“…NaPi-IIb has a wide tissue distribution: in addition to enterocytes, its mRNA expression has been reported in salivary glands, uterus, mammary glands, testis, thyroid gland, kidney, heart and placenta 15 . Despite this wide pattern of expression, mutations of SLC34A2 in humans are only causing pulmonary alveolar microlithiasis (PAM: OMIM 265100) 16 , 17 , with some data also suggesting a role in the development of testicular microlithisasis 16 and tricuspid valve calcification 18 . In addition, SLC34A2 has been implicated in the progression of several malignant tumors based on the observation that its mRNA is overexpressed in carcinomas affecting thyroid, lung, ovary, breast, liver, kidney and intestinal tract (for review see 19 ).…”

Section: Introductionmentioning

confidence: 99%

Constitutive depletion of Slc34a2/NaPi-IIb in rats causes perinatal mortality

Pastor-Arroyo

Rodríguez

Pellegrini

et al. 2021

Sci Rep

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Absorption of dietary phosphate (Pi) across intestinal epithelia is a regulated process mediated by transcellular and paracellular pathways. Although hyperphosphatemia is a risk factor for the development of cardiovascular disease, the amount of ingested Pi in a typical Western diet is above physiological needs. While blocking intestinal absorption has been suggested as a therapeutic approach to prevent hyperphosphatemia, a complete picture regarding the identity and regulation of the mechanism(s) responsible for intestinal absorption of Pi is missing. The Na+/Pi cotransporter NaPi-IIb is a secondary active transporter encoded by the Slc34a2 gene. This transporter has a wide tissue distribution and within the intestinal tract is located at the apical membrane of epithelial cells. Based on mouse models deficient in NaPi-IIb, this cotransporter is assumed to mediate the bulk of active intestinal absorption of Pi. However, whether or not this is also applicable to humans is unknown, since human patients with inactivating mutations in SLC34A2 have not been reported to suffer from Pi depletion. Thus, mice may not be the most appropriate experimental model for the translation of intestinal Pi handling to humans. Here, we describe the generation of a rat model with Crispr/Cas-driven constitutive depletion of Slc34a2. Slc34a2 heterozygous rats were indistinguishable from wild type animals under standard dietary conditions as well as upon 3 days feeding on low Pi. However, unlike in humans, homozygosity resulted in perinatal lethality.

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Phosphate in Cardiovascular Disease: From New Insights Into Molecular Mechanisms to Clinical Implications

Turner,

Beck,

Hill Gallant

et al. 2024

ATVB

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Hyperphosphatemia is a common feature in patients with impaired kidney function and is associated with increased risk of cardiovascular disease. This phenomenon extends to the general population, whereby elevations of serum phosphate within the normal range increase risk; however, the mechanism by which this occurs is multifaceted, and many aspects are poorly understood. Less than 1% of total body phosphate is found in the circulation and extracellular space, and its regulation involves multiple organ cross talk and hormones to coordinate absorption from the small intestine and excretion by the kidneys. For phosphate to be regulated, it must be sensed. While mostly enigmatic, various phosphate sensors have been elucidated in recent years. Phosphate in the circulation can be buffered, either through regulated exchange between extracellular and cellular spaces or through chelation by circulating proteins (ie, fetuin-A) to form calciprotein particles, which in themselves serve a function for bulk mineral transport and signaling. Either through direct signaling or through mediators like hormones, calciprotein particles, or calcifying extracellular vesicles, phosphate can induce various cardiovascular disease pathologies: most notably, ectopic cardiovascular calcification but also left ventricular hypertrophy, as well as bone and kidney diseases, which then propagate phosphate dysregulation further. Therapies targeting phosphate have mostly focused on intestinal binding, of which appreciation and understanding of paracellular transport has greatly advanced the field. However, pharmacotherapies that target cardiovascular consequences of phosphate directly, such as vascular calcification, are still an area of great unmet medical need.

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Tricuspid valve calcification in familial pulmonary alveolar microlithiasis: A case report

Cited by 4 publications

References 19 publications

Diagnostic Images of Pulmonary Alveolar Microlithiasis: A Rare, Autosomal Recessive Disorder

Diagnostic Images of Pulmonary Alveolar Microlithiasis: A Rare, Autosomal Recessive Disorder

Constitutive depletion of Slc34a2/NaPi-IIb in rats causes perinatal mortality

Phosphate in Cardiovascular Disease: From New Insights Into Molecular Mechanisms to Clinical Implications

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