scholarly journals Pulmonary Alveolar Microlithiasis and Rheumatoid Arthritis: A Case Report and Review of the Literature

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Waleed Hafiz ◽  
Ahmedhusam Alahmed ◽  
Mohammed Alahmadi ◽  
Rakan Alotaibi ◽  
Abdullah Alsharif ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Autosomal Recessive ◽  
Lung Parenchyma ◽  
Systemic Autoimmune Disease ◽  
Pulmonary Alveolar Microlithiasis ◽  
Slow Progression ◽  
Autosomal Recessive Condition ◽  
Alveolar Microlithiasis ◽  
Synovial Membranes ◽  
Inflammatory Polyarthritis

Pulmonary alveolar microlithiasis is a rare autosomal recessive condition that is characterized by the formation of excessive calcium phosphate microliths in the alveoli. Most patients are diagnosed in adulthood due to the slow progression of the disease. Children with this disease are asymptomatic, and changes in the lung parenchyma are usually discovered incidentally. The diagnosis is made by the combination of a positive chest imaging and histological examination. Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease characterized by chronic seropositive symmetrical inflammatory polyarthritis with numerous extra-articular manifestations. It targets the lining of the synovial membranes, frequently affects females more than males, and is treated with the disease-modifying antirheumatic drugs (DMARDs). If left untreated, it leads to increased morbidity, mortality, and socioeconomic burdens. In this case, we report a 19-year-old young man who presented with clinical and radiographic features of PAM associated with RA.

scholarly journals Pulmonary Alveolar Microlithiasis

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Kevan Mehta ◽  
Sharon Dell ◽  
Catherine Birken ◽  
Suhail Al-Saleh
Keyword(s):  
Lung Biopsy ◽  
Autosomal Recessive ◽  
Definitive Diagnosis ◽  
Chest Imaging ◽  
Imaging Diagnosis ◽  
Radiographic Findings ◽  
Pulmonary Alveolar Microlithiasis ◽  
Autosomal Recessive Condition ◽  
Alveolar Microlithiasis ◽  
Physical Findings

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 consider in children who have marked radiographic findings with no or very mild symptoms or physical findings. Diagnosis can be made with imaging alone but may necessitate lung biopsy for definitive diagnosis.

scholarly journals Pulmonary alveolar microlithiasis: no longer in the stone age

2020 ◽  
Vol 6 (3) ◽  
pp. 00289-2020
Author(s):  
Elisabeth Bendstrup ◽  
Åsa Lina M. Jönsson
Keyword(s):  
Autosomal Recessive ◽  
Specific Treatment ◽  
Hereditary Disease ◽  
Radiographic Findings ◽  
Pulmonary Alveolar Microlithiasis ◽  
The World ◽  
Alveolar Microlithiasis ◽  
Parenchymal Lung Disease ◽  
Disease Specific ◽  
Parenchymal Lung

Pulmonary alveolar microlithiasis (PAM) is a rare parenchymal lung disease caused by variants in the SCL34A2 gene and characterised by the accumulation of intra-alveolar microliths. PAM has been reported in fewer than 1100 cases throughout the world. It is an autosomal recessive hereditary disease and often associated with consanguinity. Progress with respect to the genetic background and pathophysiology has resulted in an increased understanding of the disease in recent years. Until now, 30 genetic different SLC34A2 variants have been reported, which all are considered significant for disease development. There is no sex difference and the majority of cases are diagnosed at the age of 30–40 years. Many patients are asymptomatic and the diagnosis is made at random. When symptomatic, dyspnoea, cough, chest pain and fatigue are common complaints. The diagnosis of PAM can confidently be based on typical radiographic findings and genetic testing proving rare biallelic SCL34A2 gene variants. Bronchoalveolar lavage and histopathology may show microliths. There is no disease-specific treatment and management is supportive. Lung transplantation should be considered in advanced cases.

IDIOPATHIC PULMONARY ALVEOLAR MICROLITHIASIS

PEDIATRICS ◽  
1961 ◽  
Vol 28 (4) ◽  
pp. 650-654
Author(s):  
Robert B. Clark ◽  
F. Craig Johnson
Keyword(s):  
World Literature ◽  
Middle Age ◽  
Pulmonary Alveolar Microlithiasis ◽  
Cardiopulmonary Failure ◽  
Slow Progression ◽  
The World ◽  
Males And Females ◽  
Asymptomatic Case ◽  
Alveolar Microlithiasis

An asymptomatic case of idiopathic pulmonary alveolar microlithiasis in a child is described, with an 8-year follow-up. A review of the world literature indicates that this is an uncommon, often familial, disease, occurring in males and females equally. It is characterized by extensive alveolar calculi and can easily be suspected from the appearance of a roentgenogram of the lungs. When the disease is discovered the symptoms are usually absent to minimal, in contrast to the apparently severe involvement of the lung. Probably the majority of the patients develop the disease during childhood. The usual course is slow progression, terminating in cardiopulmonary failure during middle age. The etiology remains obscure, and there is no known treatment.

scholarly journals Pulmonary Alveolar Microlithiasis: CT and pathologic findings in 10 patients

2005 ◽  
Vol 63 (1) ◽  
Author(s):  
H. Sumikawa ◽  
T. Johkoh ◽  
N. Tomiyama ◽  
S. Hamada ◽  
M. Koyama ◽  
...  
Keyword(s):  
Rank Correlation ◽  
Lung Parenchyma ◽  
Ground Glass ◽  
Pulmonary Alveolar Microlithiasis ◽  
Ct Findings ◽  
Ground Glass Attenuation ◽  
Pathologic Findings ◽  
Kappa Value ◽  
Autopsy Specimens ◽  
Alveolar Microlithiasis

Background and Aim. To evaluate CT findings of pulmonary alveolar microlithiasis and correlate the CT with the pathologic findings. Methods. The study included 10 patients with pathologically proven microlithiasis. Two independent observers evaluated the presence, extent and distribution of the CT findings. CT findings were compared with those at autopsy in two patients and with transbronchial biopsy in eight patients. Results. All patients had a myriad of calcified nodules measuring approximately 1 mm in diameter. Close apposition of the nodules resulted in areas of ground-glass attenuation and consolidation, which were the predominant abnormality on CT in all 10 patients, involving 41% ± 16.3 (mean ± SD) and 30% ± 4.8 of the lung parenchyma, respectively. Calcifications were also seen along interlobular septa, bronchovascular bundles and pleura. Other findings included interlobular septal thickening, thickening of bronchovascular bundles, nodules, and subpleural cysts. There was a solid agreement between the observers for the presence (kappa value; 0.77) and extent (Spearman rank correlation; r= 0.81 to 1.0 p<0.01) of abnormalities. Autopsy specimens demonstrated microliths in alveolar airspaces and along interlobular septa, bronchovascular bundles and pleura. Subpleural small cysts were shown to represent dilated alveolar ducts. Conclusion. Pulmonary microlithiasis is characterised by the presence of numerous small, calcified nodules, calcifications along interlobular septa, bronchovascular bundles and pleura, ground-glass opacities, consolidation, and subpleural cysts. The cysts represent dilated alveolar ducts.

scholarly journals Case series of Pulmonary Alveolar Microlithiasis from India

2019 ◽  
Vol 12 (3) ◽  
pp. e227406 ◽  
Author(s):  
Manu Chopra ◽  
Manjit Sharad Tendolkar ◽  
Vasu Vardhan
Keyword(s):  
Rare Disease ◽  
Clinical Symptoms ◽  
Case Series ◽  
Lung Parenchyma ◽  
Response To Treatment ◽  
Definitive Treatment ◽  
Alveolar Type ◽  
Pulmonary Alveolar Microlithiasis ◽  
Alveolar Microlithiasis ◽  
Calcific Deposits

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterised by calcific deposits in lung parenchyma. PAM being a progressive disease with dissociation between severity of clinical symptoms and radiological picture, it is often detected incidentally. Mutations in the SLC34A2 gene encoding the type IIb sodium phosphate cotransporter in alveolar type II cells are considered to be involved in the pathogenesis of PAM. The majority of the patients are diagnosed usually between the ages of 20 and 40 years, although paediatric PAM has also been reported. Diagnosis is confirmed by combination of radiological features, bronchial lavage and histopathological testing. At present, lung transplant is the only definitive treatment available. Though rare, the prevalence of PAM is worldwide. Till June 2018, 86 cases have been reported from India and 1042 cases have been reported worldwide. We report three cases from India, including a student, cement factory worker and a tailor, which will highlight the varied clinical and radiological presentations of this rare disease along with the response to treatment.

scholarly journals Pulmonary Alveolar Microlithiasis: An Isolated Case in a Hispanic Male

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Preethi Dileep Menon ◽  
Sarah Hackman
Keyword(s):  
Time Course ◽  
Miliary Tuberculosis ◽  
Lung Parenchyma ◽  
Gene Encoding ◽  
Pulmonary Alveolar Microlithiasis ◽  
Bilateral Lung Transplantation ◽  
Radiologic Findings ◽  
Bilateral Lung ◽  
Oxygen Requirements ◽  
Alveolar Microlithiasis

Pulmonary alveolar microlithiasis (PAM) is an uncommon hereditary lung disease characterized by widespread deposition of calcium phosphate microliths within the alveolar spaces. It is considered an autosomal recessive disease with a mutation in a gene encoding a sodium phosphate cotransporter. The imaging findings in the early phase of disease can be mistaken for miliary tuberculosis or sarcoidosis. However, the classic radiologic findings in the later phases of disease show numerous opacities causing a “snowstorm” appearance to the lungs that corresponds with widespread deposition of microliths throughout the lung parenchyma. Although the disease often progresses over a slow time course, there are no effective therapies, and bilateral lung transplantation is recommended when there are increasing oxygen requirements or evidence of pulmonary hypertension.

scholarly journals Two Cases of Pulmonary Alveolar Microlithiasis in a Family

2013 ◽  
Vol 14 (1) ◽  
pp. 80-82
Author(s):  
Mansouri Fariba ◽  
Kavianpour Mohamad Ali
Keyword(s):  
Early Childhood ◽  
Ct Scan ◽  
Male Patient ◽  
Autosomal Recessive ◽  
Unknown Etiology ◽  
Autosomal Recessive Form ◽  
Pulmonary Alveolar Microlithiasis ◽  
Mediterranean Countries ◽  
Recessive Form ◽  
Alveolar Microlithiasis

Pulmonary alveolar microlithiasis is a disease of unknown etiology. The disorder affects people at every age beginning from the early childhood. It usually occurs in a sporadic form, but an autosomal recessive form has been described, especially in patients from the Mediterranean countries. Our cases were in one family. A 44 years old man and his younger(35 years old) sister. Both of them complaint of dyspnea, bluish discolouration of face and extremities (acrocyanosis), clubbing, and coughing We evaluate both of them. These are findings in the male patient, and his sister had very similar findings. CXR and CT scan findings imply that we had 2 case of pulmonary alveolar microlithiasis (PAM). DOI: http://dx.doi.org/10.3329/jom.v14i1.14583 J MEDICINE 2013; 14 : 80-82

scholarly journals Can chest high-resolution computed tomography findings diagnose pulmonary alveolar microlithiasis?

2015 ◽  
Vol 48 (4) ◽  
pp. 205-210 ◽  
Author(s):  
Flávia Angélica Ferreira Francisco ◽  
Rosana Souza Rodrigues ◽  
Miriam Menna Barreto ◽  
Dante Luiz Escuissato ◽  
Cesar Augusto Araujo Neto ◽  
...  
Keyword(s):  
Computed Tomography ◽  
High Resolution ◽  
Lung Biopsy ◽  
Lung Parenchyma ◽  
Ground Glass ◽  
High Resolution Computed Tomography ◽  
Pulmonary Alveolar Microlithiasis ◽  
Alveolar Microlithiasis

Abstract Objective: The present study was aimed at retrospectively reviewing high-resolution computed tomography (HRCT) findings in patients with pulmonary alveolar microlithiasis in order to evaluate the frequency of tomographic findings and their distribution in the lung parenchyma. Materials and Methods: Thirteen patients (9 females and 4 males; age, 9 to 59 years; mean age, 34.5 years) were included in the present study. The HRCT images were independently evaluated by two observers whose decisions were made by consensus. The inclusion criterion was the presence of abnormalities typical of pulmonary alveolar microlithiasis at HRCT, which precludes lung biopsy. However, in 6 cases lung biopsy was performed. Results: Ground-glass opacities and small parenchymal nodules were the predominant tomographic findings, present in 100% of cases, followed by small subpleural nodules (92.3%), subpleural cysts (84.6%), subpleural linear calcifications (69.2%), crazy-paving pattern (69.2%), fissure nodularity (53.8%), calcification along interlobular septa (46.2%) and dense consolidation (46.2%). Conclusion: As regards distribution of the lesions, there was preferential involvement of the lower third of the lungs. No predominance of distribution in axial and anteroposterior directions was observed.

scholarly journals Pulmonary Alveolar Microlithiasis and Pregnancy - A Case Report

2021 ◽  
Author(s):  
MUKTA AGARWAL ◽  
RITU SINGH ◽  
Sudwita Sinha ◽  
Neeraj Kumar
Keyword(s):  
Intrauterine Growth Restriction ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Growth Restriction ◽  
Intrauterine Growth ◽  
Pulmonary Alveolar Microlithiasis ◽  
Grade Ii ◽  
Grade 3 ◽  
Alveolar Microlithiasis ◽  
Rare Autosomal Recessive Disease

Abstract Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease with a high penetrance characterized by widespread intra-alveolar accumulation of innumerable minute calculi called microliths. Pregnancy with PAM is even rarer. Here we are presenting the second case in India of 28yrs G2P1L1 37 weeks 1 day, known case of PAM with gestational hypothyroidism. She had difficulty in breathing which has increased from NYHA- grade II to NYHA- grade III from the fifth month of gestation. She had parrot beak (grade 3) clubbing. She was having intrauterine growth restriction with a growth discrepancy of four weeks. The patient was taken for cesarean section in view of a breech with premature rupture of the membrane with intrauterine growth restriction. Since lung function is compromised, oxygen supply to the baby is expected to be compromised, which can lead to intrauterine growth restriction, which is evident in this patient in both of her pregnancies.

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