Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3
Main Author: | |
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Publication Date: | 2000 |
Other Authors: | , , , , , , , , , , |
Format: | Article |
Language: | eng |
Source: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Download full: | http://hdl.handle.net/10400.4/1407 |
Summary: | Absence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and initially kept alive with respiratory assistance and hypertransfusion therapy. Cord blood smears revealed erythroblastosis, poikilocytosis, and red cells with stalk-like elongations. Band 3 and protein 4.2 were absent; spectrin, ankyrin, and glycophorin A were significantly reduced. Renal tubular acidosis was detected by the age of 3 months. Nephrocalcinosis appeared soon thereafter. After 3 years of follow-up the child is doing reasonably well on a regimen that includes regular blood transfusions and daily bicarbonate supplements. The long-term prognosis remains uncertain given the potential for hematologic and renal complications. |
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Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3Acidose Tubular RenalEsferocitose HereditáriaAbsence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and initially kept alive with respiratory assistance and hypertransfusion therapy. Cord blood smears revealed erythroblastosis, poikilocytosis, and red cells with stalk-like elongations. Band 3 and protein 4.2 were absent; spectrin, ankyrin, and glycophorin A were significantly reduced. Renal tubular acidosis was detected by the age of 3 months. Nephrocalcinosis appeared soon thereafter. After 3 years of follow-up the child is doing reasonably well on a regimen that includes regular blood transfusions and daily bicarbonate supplements. The long-term prognosis remains uncertain given the potential for hematologic and renal complications.American Society of HematologyRIHUCRibeiro, MLAlliosio, NAlmeida, HGomes, CTexier, PLemos, CMimoso, GMorlé, LBey-Cabet, FRudigoz, RCDelaunay, JTamagnini, G2012-06-20T10:18:20Z20002000-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/1407engBlood. 2000;96(4):1602-4.info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-11T14:22:41Zoai:rihuc.huc.min-saude.pt:10400.4/1407Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:03:55.277731Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 |
title |
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 |
spellingShingle |
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 Ribeiro, ML Acidose Tubular Renal Esferocitose Hereditária |
title_short |
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 |
title_full |
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 |
title_fullStr |
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 |
title_full_unstemmed |
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 |
title_sort |
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 |
author |
Ribeiro, ML |
author_facet |
Ribeiro, ML Alliosio, N Almeida, H Gomes, C Texier, P Lemos, C Mimoso, G Morlé, L Bey-Cabet, F Rudigoz, RC Delaunay, J Tamagnini, G |
author_role |
author |
author2 |
Alliosio, N Almeida, H Gomes, C Texier, P Lemos, C Mimoso, G Morlé, L Bey-Cabet, F Rudigoz, RC Delaunay, J Tamagnini, G |
author2_role |
author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
RIHUC |
dc.contributor.author.fl_str_mv |
Ribeiro, ML Alliosio, N Almeida, H Gomes, C Texier, P Lemos, C Mimoso, G Morlé, L Bey-Cabet, F Rudigoz, RC Delaunay, J Tamagnini, G |
dc.subject.por.fl_str_mv |
Acidose Tubular Renal Esferocitose Hereditária |
topic |
Acidose Tubular Renal Esferocitose Hereditária |
description |
Absence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and initially kept alive with respiratory assistance and hypertransfusion therapy. Cord blood smears revealed erythroblastosis, poikilocytosis, and red cells with stalk-like elongations. Band 3 and protein 4.2 were absent; spectrin, ankyrin, and glycophorin A were significantly reduced. Renal tubular acidosis was detected by the age of 3 months. Nephrocalcinosis appeared soon thereafter. After 3 years of follow-up the child is doing reasonably well on a regimen that includes regular blood transfusions and daily bicarbonate supplements. The long-term prognosis remains uncertain given the potential for hematologic and renal complications. |
publishDate |
2000 |
dc.date.none.fl_str_mv |
2000 2000-01-01T00:00:00Z 2012-06-20T10:18:20Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.4/1407 |
url |
http://hdl.handle.net/10400.4/1407 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Blood. 2000;96(4):1602-4. |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
American Society of Hematology |
publisher.none.fl_str_mv |
American Society of Hematology |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799131702418735104 |