{"orpha":60025,"name":"Pulmonary alveolar microlithiasis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic respiratory disease characterized by widespread intra-alveolar accumulation of minute calcium phosphate microliths, leading to pulmonary fibrosis, pulmonary hypertension, and chronic respiratory failure. Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term progressive course. Routine chest radiographs typically show a fine, ''sandstorm-like'' micronodular pattern that is more pronounced in the bases than in the apices.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-60025/","orphanet_url":"https://www.orpha.net/en/disease/detail/60025","names":{"fr":{"name":"Microlithiase pulmonaire alvéolaire","definition":"Maladie respiratoire génétique rare caractérisée par une accumulation intra-alvéolaire généralisée de minuscules microlithes de phosphate de calcium, à l'origine d'une fibrose pulmonaire, d'une hypertension pulmonaire et d'une insuffisance respiratoire chronique. L'âge d'apparition est très variable, la plupart des patients sont asymptomatiques pendant des années, voire des décennies, avant l'apparition de signes cliniques et de symptômes tels que la dyspnée à l'effort, la toux sèche, les douleurs thoraciques, l'hémoptysie ou l'hippocratisme digital. La maladie suit une évolution progressive à long terme. Les radiographies thoraciques de routine révèlent généralement un motif micronodulaire fin, avec un aspect « tempête de sable », plus prononcé dans les parties inférieures que supérieures des poumons."},"de":{"name":"Mikrolithiasis, alveoläre pulmonale","definition":"Eine seltene genetisch bedingte Atemwegserkrankung, die durch eine weit verbreitete intraalveoläre Ansammlung winziger Kalziumphosphat-Mikrolithen gekennzeichnet ist und zu Lungenfibrose, pulmonaler Hypertonie und chronischem Atemversagen führt. Das Erkrankungsalter ist sehr unterschiedlich, und die meisten Patienten sind jahre- oder jahrzehntelang asymptomatisch, bevor sich Anzeichen und Symptome wie Dyspnoe bei Anstrengung, trockener Husten, Brustschmerzen, Hämoptysen oder Fingerklumpen entwickeln. Die Krankheit nimmt einen langfristigen, progressiven Verlauf. Routineröntgenaufnahmen des Brustkorbs zeigen in der Regel ein feines, \"sandsturmartiges\" mikronoduläres Muster, das an den Basen stärker ausgeprägt ist als an den Spitzen."},"es":{"name":"Microlitiasis alvéolo-pulmonar","definition":"Es una enfermedad respiratoria genética y poco frecuente caracterizada por una deposición intraalveolar generalizada de microlitos de fosfato de calcio, que conduce a fibrosis pulmonar, hipertensión pulmonar e insuficiencia respiratoria crónica. La edad de inicio es muy variable y la mayoría de los pacientes permanecen asintomáticos durante años o décadas antes de que aparezcan signos y síntomas como disnea de esfuerzo, tos seca, dolor torácico, hemoptisis o acropaquia. La enfermedad tiene un curso progresivo a largo plazo. Las radiografías torácicas de rutina suelen mostrar un patrón micronodular fino ''en tormenta de arena'', que es más pronunciado en las bases que en los ápex."},"it":{"name":"Microlitiasi alveolare polmonare","definition":"Si tratta di una malattia respiratoria genetica rara, caratterizzata da depositi intra-alveolari diffusi di minuscoli microliti di fosfato di calcio, che causano fibrosi polmonare, ipertensione polmonare e insufficienza respiratoria cronica. L'età d'esordio è molto variabile e la maggior parte dei pazienti rimane asintomatica per anni o decenni prima di sviluppare i sintomi della malattia (dispnea da sforzo, tosse secca, dolore toracico, emottisi e ippocratismo digitale). La malattia è progressiva nel lungo periodo. Di solito le radiografie del torace rivelano una micronodularità fine, con un aspetto a ''tempesta di sabbia'', più marcato alla base rispetto all'apice."},"nl":{"name":"Pulmonale alveolaire microlithiasis","definition":"Een zeldzame, genetische respiratoire aandoening, gekarakteriseerd door wijdverspreide intra-alveolaire accumulatie van minuscule kristallen van calciumfosfaat (microlithiase), resulterend in longfibrose, pulmonale hypertensie, en chronisch respiratoir falen. De aanvangsleeftijd is zeer variabel, en de meeste patiënten zijn gedurende jaren of decennia asymptomatisch, vooraleer verschijnselen en symptomen als dyspneu bij inspanning, droge hoest, pijn op borst, hemoptoë, of trommelstokvingers ontwikkelen. De ziekte kent een langdurig progressief verloop. Routineuze radiografie van thorax toont een fijn, 'zandstorm-achtig' micronodulair patroon dat meer uitgesproken is aan de basis dan aan de top."},"pt":{"name":"Microlitíase alveolar pulmonar"},"pl":{"name":"Kamica pcherzyków płucnych"},"cs":{"name":"Plicní alveolární mikrolitiáza"},"uk":{"name":"Легеневий альвеолярний мікролітіаз","definition":"A rare genetic respiratory disease characterized by widespread intra-alveolar accumulation of minute calcium phosphate microliths, leading to pulmonary fibrosis, pulmonary hypertension, and chronic respiratory failure. Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term progressive course. Routine chest radiographs typically show a fine, ''sandstorm-like'' micronodular pattern that is more pronounced in the bases than in the apices."},"zh":{"name":"肺泡微石症"},"tr":{"name":"Pulmoner alveolar mikrolitiyazis"}},"xrefs":[{"source":"OMIM","code":"265100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J84.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"CB06","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1220010076"},{"source":"MONDO","code":"0009928","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562405","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0155912","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11894","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10037315","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":97955,"name":"Rare respiratory disease","classifications":[184]}],"children":[],"genes":[{"symbol":"SLC34A2","name":"solute carrier family 34 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20046000[PMID]_23164546[PMID]","hgnc":"11020","ensembl":"ENSG00000157765","omim":"604217","loci":["4p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-09","source":"33246992[PMID]_32964001 [PMID]","terms":[{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032094","label":"Increased circulating surfactant protein level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005317","label":"Increased pulmonary vascular resistance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031246","label":"Nonproductive cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030874","label":"Oxygen desaturation on exertion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030879","label":"Interlobular septal thickening on pulmonary HRCT","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031944","label":"Pleural thickening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025178","label":"Subpleural interstitial thickening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012387","label":"Bronchitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004963","label":"Calcification of the aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004724","label":"Calcium nephrolithiasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010766","label":"Ectopic calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008703","label":"Gonadal calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025179","label":"Ground-glass opacification on pulmonary HRCT","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004382","label":"Mitral valve calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004241","label":"Stippled calcification in carpal bones","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012215","label":"Testicular microlithiasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100529","label":"Abnormal blood phosphate concentration","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0004363","label":"Abnormal circulating calcium concentration","frequency":"Excluded (0%)","criteria":null}]}}