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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Wolters Kluwer - Medknow
2023
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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. |
format | Online Article Text |
id | pubmed-10337233 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
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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