{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T11:45:39Z","timestamp":1784720739103,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,2,1]],"date-time":"2006-02-01T00:00:00Z","timestamp":1138752000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:italic>Background<\/jats:italic>. In Gaucher disease, the infiltration of the bone marrow by glucocerebroside\u2010laden macrophages (Gaucher cells) triggers a diverse pattern of skeletal disease that results in crippling complications. Reliable ascertainment of the severity and pattern of skeletal disease is essential to determine disease status and the response to enzyme replacement therapy (ERT). Although there is ample documentation of reversal of haematological and visceral disease by ERT, there is a paucity of data on skeletal response to ERT in children.<\/jats:p><jats:p><jats:italic>Aim<\/jats:italic>. To delineate the pattern of bone disease in children with Gaucher disease in Egypt and to evaluate its response to ERT.<\/jats:p><jats:p><jats:italic>Method<\/jats:italic>. Twenty\u2010two children with Gaucher disease were treated with ERT. Phenotyping by clinical, laboratory and radiological criteria was performed at baseline and following 11.2 \u00b1 4 months of ERT. Genotyping for glucocerebrosidase (GBA) mutations was performed by gene sequencing, and genotype\u2013phenotype correlations were performed.<\/jats:p><jats:p><jats:italic>Results<\/jats:italic>. Two\u2010thirds of the patients were from consanguineous pedigrees and 14\/22 patients were homozygous or compound heterozygous for L444P and D409H mutations. Bone involvement was detected by plain radiology in 11 children (50%) and in 16 (73%) by magnetic resonance imaging (MRI). There was no correlation of severity of bone involvement and GBA genotype. ERT ameliorated bone disease: 10 of the 11 children with abnormal radiographic findings at baseline showed improvement in skeletal lesions; while 9\/16 showed improvement of marrow disease by MRI. Radiographic sensitivity and specificity were 62% and 82% compared to MRI for detection of bone involvement in this patient population. At baseline, bone pain was present in 5 patients and ERT resulted in complete symptomatic remission in all of them. ERT was associated with significant improvement in growth parameters and amelioration of haematological and visceral involvement.<\/jats:p><jats:p><jats:italic>Conclusion<\/jats:italic>. Symptomatic and radiological skeletal disease is common in children with Gaucher disease in Egypt. MRI is the most accurate technique for detecting early skeletal involvement. There was no correlation between severity of skeletal involvement and GBA genotype. ERT was effective in ameliorating radiological manifestations of skeletal disease and achieving complete remission of bone pain.<\/jats:p>","DOI":"10.1007\/s10545-006-0121-6","type":"journal-article","created":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T21:48:10Z","timestamp":1144360090000},"page":"92-98","source":"Crossref","is-referenced-by-count":38,"title":["Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients"],"prefix":"10.1002","volume":"29","author":[{"given":"A.","family":"El\u2010Beshlawy","sequence":"first","affiliation":[{"name":"Department of Pediatrics Cairo University School of Medicine 1 Ben Kutiba Street, Section seven Nasr city, Cairo 11487 Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Ragab","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cairo University School of Medicine 1 Ben Kutiba Street, Section seven Nasr city, Cairo 11487 Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Youssry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cairo University School of Medicine 1 Ben Kutiba Street, Section seven Nasr city, Cairo 11487 Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Yakout","sequence":"additional","affiliation":[{"name":"Department of Radiology Cairo University School of Medicine Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"El\u2010Kiki","sequence":"additional","affiliation":[{"name":"Department of Radiology Cairo University School of Medicine Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Eid","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cairo University School of Medicine 1 Ben Kutiba Street, Section seven Nasr city, Cairo 11487 Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. M.","family":"Mansour","sequence":"additional","affiliation":[{"name":"Department Clinical Pathology Cairo University School of Medicine Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. Abd","family":"El\u2010Hamid","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cairo University School of Medicine 1 Ben Kutiba Street, Section seven Nasr city, Cairo 11487 Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medicine Yale University School of Medicine New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. K.","family":"Mistry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medicine Yale University School of Medicine New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2]]},"reference":[{"key":"e_1_2_1_2_1","volume-title":"Statistical Methods in Medical Research","author":"Armitage P","year":"1994"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.75.suppl_1.750037"},{"key":"e_1_2_1_4_1","first-page":"3635","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Beutler E","year":"2001"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.1996.0016"},{"issue":"8","key":"e_1_2_1_6_1","first-page":"792","article-title":"Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics","volume":"85","author":"Giraldo P","year":"2000","journal-title":"Haematologica"},{"issue":"9","key":"e_1_2_1_7_1","first-page":"627","article-title":"Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease","volume":"101","author":"Hsu CC","year":"2002","journal-title":"J Formos Med Assoc"},{"issue":"2","key":"e_1_2_1_8_1","first-page":"158","article-title":"Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and\/or enzyme replacement therapy","volume":"2","author":"Kauli R","year":"2000","journal-title":"Isr Med Assoc J"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02682034"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.75.suppl_1.750013"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11926-000-0059-x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2004.07.009"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2002.0511"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.75.suppl_1.750025"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0001-4079(19)34275-X"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2002.0517"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.08.015"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<316::AID-AJMG15>3.0.CO;2-P"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002560000276"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2004.07.008"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(02)01150-6"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04242.x"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.75.suppl_1.750002"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0121-6","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-006-0121-6","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0121-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:27:30Z","timestamp":1694755650000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0121-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,2]]}},"alternative-id":["10.1007\/s10545-006-0121-6"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0121-6","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2]]}}}