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Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation

In this case study, we report an adult patient presenting with generalized weakness, marked anemia, spherocytosis, and no features of thalassemia. The patient was treated for suspicion of autoimmune hemolytic anemia but was recalcitrant to treatment. Genetic analysis revealed the patient to be homoz...

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Autores principales: Shaikh, Wasiyeeullah, Suratkal, Lohitaksha, Bhave, Abhay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337233/
https://www.ncbi.nlm.nih.gov/pubmed/37448902
http://dx.doi.org/10.4103/ijn.ijn_210_21
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author Shaikh, Wasiyeeullah
Suratkal, Lohitaksha
Bhave, Abhay
author_facet Shaikh, Wasiyeeullah
Suratkal, Lohitaksha
Bhave, Abhay
author_sort Shaikh, Wasiyeeullah
collection PubMed
description In this case study, we report an adult patient presenting with generalized weakness, marked anemia, spherocytosis, and no features of thalassemia. The patient was treated for suspicion of autoimmune hemolytic anemia but was recalcitrant to treatment. Genetic analysis revealed the patient to be homozygous for SLC4A1 c.2573C>A (p.Ala858Asp). Distal renal tubular acidosis (dRTA) can be caused by mutations in SLC4A1, which encodes the Cl(−)/HCO(3)(−) exchanger of the renal type A intercalated cell, kidney AE1. SLC4A1 variants have been reported in dRTA patients from North America, Europe, and Southeast Asia. In some rare instances, SLC4A1 dRTA can present with hemolytic anemia resulting in marked anemia that is not responsive to standard interventions. This report identifies an autosomal recessive inheritance pattern for SLC4A1 variants in a patient presenting with dRTA and hemolytic anemia.
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spelling pubmed-103372332023-07-13 Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation Shaikh, Wasiyeeullah Suratkal, Lohitaksha Bhave, Abhay Indian J Nephrol Case Report In this case study, we report an adult patient presenting with generalized weakness, marked anemia, spherocytosis, and no features of thalassemia. The patient was treated for suspicion of autoimmune hemolytic anemia but was recalcitrant to treatment. Genetic analysis revealed the patient to be homozygous for SLC4A1 c.2573C>A (p.Ala858Asp). Distal renal tubular acidosis (dRTA) can be caused by mutations in SLC4A1, which encodes the Cl(−)/HCO(3)(−) exchanger of the renal type A intercalated cell, kidney AE1. SLC4A1 variants have been reported in dRTA patients from North America, Europe, and Southeast Asia. In some rare instances, SLC4A1 dRTA can present with hemolytic anemia resulting in marked anemia that is not responsive to standard interventions. This report identifies an autosomal recessive inheritance pattern for SLC4A1 variants in a patient presenting with dRTA and hemolytic anemia. Wolters Kluwer - Medknow 2023 2023-02-21 /pmc/articles/PMC10337233/ /pubmed/37448902 http://dx.doi.org/10.4103/ijn.ijn_210_21 Text en Copyright: © 2023 Indian Journal of Nephrology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Shaikh, Wasiyeeullah
Suratkal, Lohitaksha
Bhave, Abhay
Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation
title Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation
title_full Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation
title_fullStr Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation
title_full_unstemmed Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation
title_short Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation
title_sort rare case of hemolytic anemia and distal renal tubular acidosis in an adult due to homozygous slc4a1 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337233/
https://www.ncbi.nlm.nih.gov/pubmed/37448902
http://dx.doi.org/10.4103/ijn.ijn_210_21
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