Distal Renal Tubular Acidosis: Clinical Variability in the Same Family

Detalhes bibliográficos
Autor(a) principal: Ramos, Daniela
Data de Publicação: 2019
Outros Autores: Reis, Sofia, Cordinhã, Carolina, Carmo, Carmen do, Gomes, Clara, Correia, António Jorge
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758
Resumo: Primary distal renal tubular acidosis is a genetic disorder characterized by the inability in acidification of urine. Symptoms are usually non-specific and highly variable. We described six cases in a family with four generations affected. The first case was diagnosed in a 3-year-old child presenting with hematuria and urolithiasis. Later, his sister, sons and two nephews were studied. Although asymptomatic, they all had nephrocalcinosis and hyperchloremic metabolic acidosis with normal anionic gap, except one case with normal arterial blood gas test but with nephrocalcinosis and inability of urinary acidification. At follow-up, they all maintained nephrocalcinosis, the index case had acute renal damage and developed hypertension, but none developed chronic renal disease. The diagnosis of autosomal dominant distal renal tubular acidosis is generally made later and patients tend to present with milder disease. But the condition may manifest early and have a variable phenotypic severity spectrum. Carrying out screening through assessment of family history enables an earlier diagnosis while also allowing treatment to start sooner.
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spelling Distal Renal Tubular Acidosis: Clinical Variability in the Same FamilyAcidose Tubular Renal Distal: Expressão Clínica Variável na Mesma FamíliaAcidosisRenal Tubular/geneticsChildAcidose Tubular Renal Distal/genéticaCriançaPrimary distal renal tubular acidosis is a genetic disorder characterized by the inability in acidification of urine. Symptoms are usually non-specific and highly variable. We described six cases in a family with four generations affected. The first case was diagnosed in a 3-year-old child presenting with hematuria and urolithiasis. Later, his sister, sons and two nephews were studied. Although asymptomatic, they all had nephrocalcinosis and hyperchloremic metabolic acidosis with normal anionic gap, except one case with normal arterial blood gas test but with nephrocalcinosis and inability of urinary acidification. At follow-up, they all maintained nephrocalcinosis, the index case had acute renal damage and developed hypertension, but none developed chronic renal disease. The diagnosis of autosomal dominant distal renal tubular acidosis is generally made later and patients tend to present with milder disease. But the condition may manifest early and have a variable phenotypic severity spectrum. Carrying out screening through assessment of family history enables an earlier diagnosis while also allowing treatment to start sooner.A acidose tubular renal distal primária deve-se a um defeito genético caracterizado pela incapacidade de acidificar a urina. A sintomatologia é inespecífica e muito variável. Descrevem-se seis casos de acidose tubular renal distal numa família em que a doença afetou quatro gerações. O primeiro caso foi diagnosticado aos três anos por hematúria e urolitíase. Posteriormente foram estudados a irmã, os dois filhos e dois sobrinhos do caso índex. Apesar de assintomáticos, todos apresentavam nefrocalcinose e acidose metabólica hiperclorémica, à exceção de um caso com gasimetria normal mas com nefrocalcinose e incapacidade de acidificação urinária. Na evolução todos mantiveram nefrocalcinose, o caso índex desenvolveu hipertensão arterial mas nenhum evoluiu para insuficiência renal crónica. O diagnóstico da acidose tubular renal distal autossómica dominante é geralmente mais tardio e com sintomatologia mais ligeira. A doença pode contudo manifestar-se precocemente e com espectro de gravidade variável. O rastreio pela história familiar permite antecipar o diagnóstico e iniciar tratamento mais precocemente.Ordem dos Médicos2019-08-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfapplication/pdfapplication/pdfimage/jpegapplication/pdfapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758oai:ojs.www.actamedicaportuguesa.com:article/10758Acta Médica Portuguesa; Vol. 32 No. 7-8 (2019): July-August; 542-545Acta Médica Portuguesa; Vol. 32 N.º 7-8 (2019): Julho-Agosto; 542-5451646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758/5740https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758/10376https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758/10377https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758/10610https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758/10652https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758/10717Direitos de Autor (c) 2019 Acta Médica Portuguesainfo:eu-repo/semantics/openAccessRamos, DanielaReis, SofiaCordinhã, CarolinaCarmo, Carmen doGomes, ClaraCorreia, António Jorge2022-12-20T11:06:05Zoai:ojs.www.actamedicaportuguesa.com:article/10758Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:19:56.541326Repositório 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 Distal Renal Tubular Acidosis: Clinical Variability in the Same Family
Acidose Tubular Renal Distal: Expressão Clínica Variável na Mesma Família
title Distal Renal Tubular Acidosis: Clinical Variability in the Same Family
spellingShingle Distal Renal Tubular Acidosis: Clinical Variability in the Same Family
Ramos, Daniela
Acidosis
Renal Tubular/genetics
Child
Acidose Tubular Renal Distal/genética
Criança
title_short Distal Renal Tubular Acidosis: Clinical Variability in the Same Family
title_full Distal Renal Tubular Acidosis: Clinical Variability in the Same Family
title_fullStr Distal Renal Tubular Acidosis: Clinical Variability in the Same Family
title_full_unstemmed Distal Renal Tubular Acidosis: Clinical Variability in the Same Family
title_sort Distal Renal Tubular Acidosis: Clinical Variability in the Same Family
author Ramos, Daniela
author_facet Ramos, Daniela
Reis, Sofia
Cordinhã, Carolina
Carmo, Carmen do
Gomes, Clara
Correia, António Jorge
author_role author
author2 Reis, Sofia
Cordinhã, Carolina
Carmo, Carmen do
Gomes, Clara
Correia, António Jorge
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Ramos, Daniela
Reis, Sofia
Cordinhã, Carolina
Carmo, Carmen do
Gomes, Clara
Correia, António Jorge
dc.subject.por.fl_str_mv Acidosis
Renal Tubular/genetics
Child
Acidose Tubular Renal Distal/genética
Criança
topic Acidosis
Renal Tubular/genetics
Child
Acidose Tubular Renal Distal/genética
Criança
description Primary distal renal tubular acidosis is a genetic disorder characterized by the inability in acidification of urine. Symptoms are usually non-specific and highly variable. We described six cases in a family with four generations affected. The first case was diagnosed in a 3-year-old child presenting with hematuria and urolithiasis. Later, his sister, sons and two nephews were studied. Although asymptomatic, they all had nephrocalcinosis and hyperchloremic metabolic acidosis with normal anionic gap, except one case with normal arterial blood gas test but with nephrocalcinosis and inability of urinary acidification. At follow-up, they all maintained nephrocalcinosis, the index case had acute renal damage and developed hypertension, but none developed chronic renal disease. The diagnosis of autosomal dominant distal renal tubular acidosis is generally made later and patients tend to present with milder disease. But the condition may manifest early and have a variable phenotypic severity spectrum. Carrying out screening through assessment of family history enables an earlier diagnosis while also allowing treatment to start sooner.
publishDate 2019
dc.date.none.fl_str_mv 2019-08-01
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758/5740
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758/10376
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758/10377
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758/10610
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758/10652
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10758/10717
dc.rights.driver.fl_str_mv Direitos de Autor (c) 2019 Acta Médica Portuguesa
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Direitos de Autor (c) 2019 Acta Médica Portuguesa
eu_rights_str_mv openAccess
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dc.publisher.none.fl_str_mv Ordem dos Médicos
publisher.none.fl_str_mv Ordem dos Médicos
dc.source.none.fl_str_mv Acta Médica Portuguesa; Vol. 32 No. 7-8 (2019): July-August; 542-545
Acta Médica Portuguesa; Vol. 32 N.º 7-8 (2019): Julho-Agosto; 542-545
1646-0758
0870-399X
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