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Pulmonary Alveolar Microlithiasis


Presentation

  • Sporadic cases are more common, but the disease also presents in an inherited familial form. The greatest number of reported cases is from Europe and especially Turkey. We present a 43-year-old female with complaints of dyspnea for many years.[ncbi.nlm.nih.gov]
  • At present lung transplantation is the only effective therapy. However, better knowledge of the gene responsible offers hope for new therapies. Copyright ERS 2015.[ncbi.nlm.nih.gov]
  • Our case demonstrates that PAM needs to be considerate in the differential diagnosis of lung lesions that present with crazy-paving pattern on the high resolution CT.[ncbi.nlm.nih.gov]
  • The patient, 28 weeks pregnant, was rehospitalized 10 months after the diagnosis, presenting hypoxemic acute respiratory failure and severe restrictive ventilatory defect on spirometry.[ncbi.nlm.nih.gov]
Asymptomatic
  • The male child was diagnosed initially and family screening led to the diagnosis of the asymptomatic sister.[ncbi.nlm.nih.gov]
  • Although most children with this disease are asymptomatic, our patient had persistent cough for more than 3 years. It is likely that his chronic cough was a direct consequence of the disease.[ncbi.nlm.nih.gov]
  • Most patients are asymptomatic at the time of diagnosis. It may progress slowly over years to respiratory failure and cor pulmonale.[ncbi.nlm.nih.gov]
  • Presence of symptoms (productive cough, fever), their periodic occurrence (lasting up to 1 week), and comparatively long asymptomatic periods should be emphasized.[ncbi.nlm.nih.gov]
  • Pulmonary alveolar microlithiasis is a rare disease characterized by widespread intra-alveolar calcification of both lungs that is asymptomatic in the early stages.[ncbi.nlm.nih.gov]
Infertility
  • Azoospermia resulting in primary infertility and increased lung volumes by helium dilution test were other noteworthy features of the case.[ncbi.nlm.nih.gov]
  • It is often associated with cancer and infertility. Since the gene we identified is also expressed in testis, we searched for mutations in subjects with TM.[ncbi.nlm.nih.gov]
  • Metastatic calcification Alveolar proteinosisAlveolar edema Alveolar microlithiasi Alveolar hemorrhage Lit 1022 -2015 80 cases india Solute carrier SLC 2a, 2b, 2c Slight male predilection in India with, testicular atrophy, obstructive azoospermia, and infertility[slideshare.net]
Cough
  • Although most children with this disease are asymptomatic, our patient had persistent cough for more than 3 years. It is likely that his chronic cough was a direct consequence of the disease.[ncbi.nlm.nih.gov]
  • A 23-year-old female presented with a history of cough, wheeze, chest pain, and episodic wheeze for five months.[ncbi.nlm.nih.gov]
  • A 4 year 7 month-old girl of consanguineous parents presented with only fever for 25 days but no cough or respiratory distress. Ches x-ray showed bilateral diffuse nodulo-striate opacities in both lungs.[ncbi.nlm.nih.gov]
  • Presence of symptoms (productive cough, fever), their periodic occurrence (lasting up to 1 week), and comparatively long asymptomatic periods should be emphasized.[ncbi.nlm.nih.gov]
  • We report a patient with pulmonary alveolar microlithiasis who was admitted to King Abdul-Aziz Hospital, Makkah, Kingdom of Saudi Arabia with chest pain, shortness of breath, dry cough and swelling of lower limbs.[ncbi.nlm.nih.gov]
Dry Cough
  • We report a patient with pulmonary alveolar microlithiasis who was admitted to King Abdul-Aziz Hospital, Makkah, Kingdom of Saudi Arabia with chest pain, shortness of breath, dry cough and swelling of lower limbs.[ncbi.nlm.nih.gov]
  • This is a case report of 32 years old male, who presented in outdoor clinic of Pulmonology Department, Jinnah Hospital, Lahore, with progressively increasing shortness of breath over 2 years, multiple episodes of dry cough over 9 months, history of low-grade[ncbi.nlm.nih.gov]
  • The patient had persistent dry cough, and gradually progressive dyspnea on exertion. The diagnosis was established on the basis of roentgenography and confirmed by the sputum and transbronchial biopsy findings.[ncbi.nlm.nih.gov]
  • A 30-year-old woman was examined for a history of exertional breathlessness, swelling of her feet, and a mild dry cough of 4 to 5 months' duration.[ncbi.nlm.nih.gov]
  • We report a 45-year-old female who was referred to the All India Institute of Medical Sciences, Bhopal, India, in 2017 with a two-year history of progressively worsening dyspnoea and dry coughing.[ncbi.nlm.nih.gov]
Hemoptysis
  • There was no history of expectoration, hemoptysis, chest pain, or tuberculosis. General physical examination showed no evidence of clubbing of the nails or lymphadenopathy.[ncbi.nlm.nih.gov]
  • However, a certain degree of dyspnea with a productive cough may occur together with a sporadic hemoptysis and thoracic pains.[ncbi.nlm.nih.gov]
  • There was no history of fever, hemoptysis or chest pain. Patient was a non-smoker. There was no history of tuberculosis within the family members or any known history of pulmonary disease.[ijcasereportsandimages.com]
  • The most common symptoms include the following: dyspnea dry cough chest pain sporadic hemoptysis asthenia pneumothoraces PAM is hereditary and another involved family member can be identified in 36% to 61% of cases.[en.wikipedia.org]
Chronic Cough
  • It is likely that his chronic cough was a direct consequence of the disease.[ncbi.nlm.nih.gov]
  • Some patients may present chronic cough and progressive dyspnea. Normal or mild restrictive pattern of pulmonary function tests may be present in asymptomatic cases 7. Rarely, the cases are detected on bone scan images.[ijnm.in]
Persistent Cough
  • Although most children with this disease are asymptomatic, our patient had persistent cough for more than 3 years. It is likely that his chronic cough was a direct consequence of the disease.[ncbi.nlm.nih.gov]
  • People with this disorder can develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Affected individuals may also experience chest pain that worsens when coughing, sneezing, or taking deep breaths.[ghr.nlm.nih.gov]
Failure to Thrive
  • She was asymptomatic except for failure to thrive. Plain chest radiographs on admission showed sand-like opacities with calcific densities throughout both lung fields, predominantly in the lower zones.[ncbi.nlm.nih.gov]

Workup

X-Ray Abnormal
  • A 12-year-old girl of Turkish descent was referred 6 weeks after an influenza A infection because of persistent chest X-ray abnormalities compatible with interstitial lung disease.[ncbi.nlm.nih.gov]
  • Despite extensive X-ray abnormalities, tests of pulmonary interstitium involvement and exercise tests revealed normal results.[ncbi.nlm.nih.gov]
Chest X-Ray Abnormal
  • A 12-year-old girl of Turkish descent was referred 6 weeks after an influenza A infection because of persistent chest X-ray abnormalities compatible with interstitial lung disease.[ncbi.nlm.nih.gov]
Restrictive Pulmonary Function
  • Many patients are asymptomatic and the majority of patients either have normal or restrictive pulmonary function. The clinical course of the disease varies.[ncbi.nlm.nih.gov]

Treatment

  • Hui-Ying Wang, Update on diagnosis and treatment of pulmonary alveolar microlithiasis, World Journal of Respirology, 4, 3, (26), (2014).[doi.org]
  • 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.[ncbi.nlm.nih.gov]
  • The recent development of a laboratory animal model has revealed several promising treatment approaches for future trials. Published by Elsevier Inc.[ncbi.nlm.nih.gov]
  • No drug side effects were observed within the treatment period.[ncbi.nlm.nih.gov]
  • The pathogenetic mechanism of this treatment on the genetic basis of disease is discussed.[ncbi.nlm.nih.gov]

Prognosis

  • 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.[ncbi.nlm.nih.gov]
  • Scrutiny of the long-term follow-up data of PAM patients reveals that the prognosis for PAM is poor. The establishment of an effective treatment, which is not yet available, is mandatory.[ncbi.nlm.nih.gov]
  • Treatment and prognosis No known treatment is available. Overall prognosis is good but occasionally slow progression can result in end-stage lung fibrosis requiring lung transplantation.[radiopaedia.org]
  • Scrutiny of the long-term follow-up data of PAM patients reveals that the prognosis for PAM is poor.[journals.lww.com]

Etiology

  • Pulmonary alveolar microlithiasis (PAM) is a rare idiopathic disease with unknown etiology and pathogenesis.[ncbi.nlm.nih.gov]
  • The etiology of the disease is still unknown and many authors have supposed that an inherited local enzymatic defect is responsible for calcium deposition.[ncbi.nlm.nih.gov]
  • Pulmonary alveolar microlithiasis is an inherited disorder of unknown etiology. It is a rare disease characterized by calcified intraalveolar microgranules.[ncbi.nlm.nih.gov]
  • Pulmonary alveolar microlithiasis (PAM) is a rare disease of unknown etiology characterized by accumulation of calcific concretions in the alveolar spaces. The paper reports a case of PAM in a 56-year-old male.[ncbi.nlm.nih.gov]
  • The present report aims to contribute to the literature with a pathologically and genetically confirmed new case to add insight into the etiology of this rare disease.[ncbi.nlm.nih.gov]

Epidemiology

  • 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[ncbi.nlm.nih.gov]
  • This systematic review helps to determine epidemiological and clinical characteristics of pulmonary alveolar microlithiasis.[ncbi.nlm.nih.gov]
  • @article{Mariotta1997PulmonaryAM, title {Pulmonary alveolar microlithiasis: Review of Italian reports}, author {Salvatore Mariotta and Laura Guidi and Maria Rosaria Papale and Alessandro Ricci and Alberto Bisetti}, journal {European Journal of Epidemiology[semanticscholar.org]
  • A better knowledge of the epidemiological characteristics of this rare disease could help to diagnose a larger number of cases and to gain insight into its etiology and pathogenesis, which are still unknown.[ncbi.nlm.nih.gov]
  • Each chapter focuses on the pathogenic mechanisms and therapeutic targets suggested by basic research and follows an easy to read format: brief introduction followed by discussion of epidemiology, genetic basis and molecular pathogenesis, animal models[books.google.com]
Sex distribution
Age distribution

Pathophysiology

  • We suspect that the markedly enhanced pulmonary FDG uptake may have some relation to the pathophysiology of PAM.[ncbi.nlm.nih.gov]

Prevention

  • There are still no proven treatments, but earlier diagnosis may allow for evaluation of preventative strategies that could improve outcome.[ncbi.nlm.nih.gov]
  • A low-phosphate diet prevents microlith formation in young animals and reduces lung injury on the basis of reduction in serum SP-D.[doi.org]
  • To date, no treatment has been proven to effectively reverse or prevent the progression of PAM.[en.wikipedia.org]
  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.com]

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