{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T18:41:19Z","timestamp":1773772879144,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Nephrology"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p>Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported.<\/jats:p>","DOI":"10.1155\/2017\/9543079","type":"journal-article","created":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T17:00:35Z","timestamp":1506877235000},"page":"1-4","source":"Crossref","is-referenced-by-count":3,"title":["Early Renal Involvement in a Girl with Classic Fabry Disease"],"prefix":"10.1155","volume":"2017","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9383-6488","authenticated-orcid":true,"given":"Fernando","family":"Perretta","sequence":"first","affiliation":[{"name":"Servicio de Terapia Intensiva del Hospital Dr. Enrique Erill de Escobar, Provincia de Buenos Aires, Argentina"},{"name":"GINEF Argentina (Grupo de Investigaci\u00f3n Nefrol\u00f3gica en la Enfermedad de Fabry), Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norberto","family":"Antongiovanni","sequence":"additional","affiliation":[{"name":"GINEF Argentina (Grupo de Investigaci\u00f3n Nefrol\u00f3gica en la Enfermedad de Fabry), Buenos Aires, Argentina"},{"name":"Centro de Infusi\u00f3n y Estudio de Enfermedades Lisosomales del Instituto de Nefrolog\u00eda Cl\u00ednica Pergamino, Provincia de Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebasti\u00e1n","family":"Jaurretche","sequence":"additional","affiliation":[{"name":"GINEF Argentina (Grupo de Investigaci\u00f3n Nefrol\u00f3gica en la Enfermedad de Fabry), Buenos Aires, Argentina"},{"name":"Centro de Neurociencias Los Manantiales, Grupo Gamma Rosario, Provincia de Santa Fe, Argentina"},{"name":"C\u00e1tedra de Biof\u00edsica y Fisiolog\u00eda, Instituto Universitario Italiano de Rosario, Provincia de Santa Fe, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1138375"},{"key":"2","first-page":"2741","volume-title":"Alpha-galactosidase a deficiency: fabry disease","year":"1995"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvq333"},{"key":"4","first-page":"157","volume":"81","year":"1973","journal-title":"Journal of Laboratory and Clinical Medicine"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-138-4-200302180-00014"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2004.01309.x"},{"key":"7","first-page":"3733","volume-title":"Alpha-Galactosidase a deficiency: fabry disease","year":"2001"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072116"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2017.05.007"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2007.12.032"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0196-0"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-30"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.01.051"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.120"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp528"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1159\/000369309"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.2215\/cjn.02150212"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2010.05.003"},{"issue":"1","key":"20","volume":"14","year":"2016","journal-title":"Revista Nefrolog\u00eda Argentina"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0168346"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1086\/422366"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfw094"}],"container-title":["Case Reports in Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crin\/2017\/9543079.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crin\/2017\/9543079.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crin\/2017\/9543079.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T17:00:35Z","timestamp":1506877235000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crin\/2017\/9543079\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":23,"alternative-id":["9543079","9543079"],"URL":"https:\/\/doi.org\/10.1155\/2017\/9543079","relation":{},"ISSN":["2090-6641","2090-665X"],"issn-type":[{"value":"2090-6641","type":"print"},{"value":"2090-665X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}