{"orpha":330015,"name":"Lead poisoning","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lead intoxication","Plumbism","Saturnism"],"definition":"Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-330015/","orphanet_url":"https://www.orpha.net/en/disease/detail/330015","names":{"fr":{"name":"Intoxication au plomb","synonyms":["Saturnisme"],"definition":"Défini comme une exposition aiguë ou chronique au plomb entraînant une accumulation de plomb (plombémie >&nbsp;5&nbsp;ug/dL) qui peut affecter tous les organes du corps et qui est particulièrement nocive chez les enfants. Les manifestations cliniques dépendent de la quantité et de la durée de l'exposition et comprennent des douleurs abdominales, des coliques, une constipation, un liseré gingival grisâtre, des arthralgies, des myalgies, des neuropathies périphériques, une fatigue, une irritabilité, une anémie, une néphropathie chronique et une hypertension. Chez les enfants, même de faibles niveaux d'exposition (BLC <5&nbsp;ug/dL) entraînent des effets irréversibles tels qu'un déclin cognitif, une diminution de la durée de la concentration, des troubles du comportement, une dyslexie, des troubles de l'attention, une hypertension, une insuffisance rénale, une immunotoxicité et une toxicité pour les organes reproducteurs."},"de":{"name":"Bleivergiftung","synonyms":["Blei-Intoxikation","Saturnismus"]},"es":{"name":"Intoxicación por plomo","synonyms":["Envenenamiento por plomo","Plumbismo","Saturnismo"],"definition":"Se define como la exposición aguda o crónica al plomo que produce un acúmulo de plomo (concentración de plomo en la sangre (BLC, por sus siglas en inglés) > 5 ug/dL), pudiendo afectar a todos los sistemas orgánicos del cuerpo y a la que los niños son más susceptibles. Las manifestaciones clínicas dependen de la cantidad y de la duración de la exposición, e incluyen dolor abdominal, cólico, estreñimiento, línea oscura en el tejido gingival (Ribete de Burton), artralgia, mialgia, neuropatía periférica, fatiga, irritabilidad, anemia, nefropatía crónica e hipertensión. El niños, se ha descrito que incluso niveles bajos de exposición (BLC <5 ug/dL) producen efectos irreversibles, tales como pérdida del conocimiento, reducción de la capacidad de atención, alteración de la conducta, dislexia, trastorno por déficit de atención, hipertensión, insuficiencia renal, inmunotoxicidad y toxicidad para los órganos reproductivos."},"it":{"name":"Avvelenamento da piombo","synonyms":["Intossicazione da piombo","Saturnismo"],"definition":"L'intossicazione da piombo è causata da un'esposizione acuta o cronica al piombo, che comporta l'accumulo del metallo (concentrazione nel sangue >5 &#956;g/dL) in qualunque organo del corpo; i bambini sono maggiormente suscettibili. I segni clinici dipendono dalla concentrazione e dalla durata dell'esposizione e comprendono: il dolore addominale, le coliche, la costipazione, la presenza di un orletto gengivale scuro, l'artralgia, la mialgia, la neuropatia periferica, l'affaticamento, l'irritabilità, l'anemia, la nefropatia cronica e l'ipertensione. Nei bambini, i livelli inferiori di esposizione (concentrazione nel sangue <5 &#956;g/dL) causano effetti irreversibili come il deterioramento cognitivo, la riduzione della capacità di concentrazione, alterazioni del comportamento, dislessia, deficit dell'attenzione, ipertensione, insufficienza renale, immunotossicità e tossicità a carico degli organi riproduttivi."},"nl":{"name":"Loodvergiftiging","synonyms":["Loodintoxicatie","Plumbisme","Saturnisme"],"definition":"Loodvergiftiging wordt gedefinieerd als acute of chronische blootstelling aan lood die leidt tot een accumulatie van lood (loodconcentratie in het bloed (BLC) >5 µg/dL) die elk orgaansysteem kan treffen en waarvoor kinderen vatbaarder zijn. Klinische manifestaties hangen af van de hoeveelheid en de duur van de blootstelling, en omvatten buikpijn, kolieken, constipatie, een loodlijn op het tandvlees, artralgie, myalgie, perifere neuropathie, vermoeidheid, prikkelbaarheid, anemie, chronische nefropathie en hypertensie. Er wordt gerapporteerd dat bij kinderen zelfs blootstelling aan lage niveaus (BLC <5 µg/dL) kan leiden tot onomkeerbare effecten zoals cognitieverlies, verminderd concentratievermogen, gedragswijzigingen, dyslexie, aandachtstekortstoornis, hypertensie, nierfunctiestoornissen, immunotoxiciteit en toxiciteit aan de voortplantingsorganen."},"pt":{"name":"Intoxicação por chumbo"},"pl":{"name":"Zatrucie ołowiem","synonyms":["Intoksykacja ołowiem","Ołowica","Saturnizm"]},"cs":{"name":"Otrava olovem","synonyms":["Intoxikace olovem","Plumbismus","Saturnismus"]},"uk":{"name":"Отруєння свинцем","synonyms":["Свинцева інтоксикація","Плюмбізм","Сатурнізм"],"definition":"Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs."},"zh":{"name":"铅中毒","synonyms":["Lead intoxication","Plumbism","Saturnism"],"definition":"铅中毒的定义是急性或慢性接触铅，导致铅蓄积（血铅浓度（BLC） inf 5ug/dL），可影响身体的每个器官系统，儿童更容易受到铅中毒的影响。临床表现取决于暴露量和持续时间，包括腹痛、绞痛、便秘、牙龈组织出现铅线、关节痛、肌痛、周围神经病变、疲劳、易怒、贫血、慢性肾病和高血压。据报道，在儿童中，即使是低水平的接触（BLC sup 5 ug/dL）也会导致不可逆的影响，如认知能力丧失、注意力集中时间缩短、行为改变、阅读障碍、注意缺陷障碍、高血压、肾损害、免疫毒性和生殖器官毒性。"},"tr":{"name":"Kurşun zehirlenmesi","synonyms":["Plumbizm","Satürnizm","Kurşun zehirlenmesi"]}},"xrefs":[{"source":"ICD-10","code":"T56.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"NE61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"358356779"},{"source":"MONDO","code":"0018019","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007855","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023176","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":108999,"name":"Rare disorder due to toxic effects"},"parents":[{"orpha":556508,"name":"Rare disorder due to poisoning","classifications":[204]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"Europe","status":"Validated","source":"European Medicines Agency 2013[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.68,"area":"France","status":"Validated","source":"OTHERitut de Veille Sanitaire 2010[OTHER]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-04","source":"27902665[PMID]_30303719[PMID]_29214886[PMID]_27661040[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032155","label":"Abdominal cramps","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002715","label":"Abnormality of the immune system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100511","label":"Abnormality of vitamin D metabolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005560","label":"Imbalanced hemoglobin synthesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031058","label":"Impairment of activities of daily living","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007015","label":"Poor gross motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100602","label":"Preeclampsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000124","label":"Renal tubular dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002843","label":"Abnormal T cell morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012864","label":"Abnormal sperm morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005368","label":"Abnormality of humoral immunity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002270","label":"Abnormality of the autonomic nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000140","label":"Abnormality of the menstrual cycle","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004437","label":"Cranial hyperostosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031429","label":"Decreased circulating osteocalcin level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030018","label":"Decreased female libido","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040306","label":"Decreased male libido","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003141","label":"Increased LDL cholesterol concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012207","label":"Reduced sperm motility","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Very rare (<4-1%)","criteria":null}]}}