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Case Reports
. 2023 May-Jun;33(3):209-212.
doi: 10.4103/ijn.ijn_210_21. Epub 2023 Feb 21.

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

Wasiyeeullah Shaikh  1 , Lohitaksha Suratkal  1 , Abhay Bhave  2
Affiliations
Case Reports

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

Wasiyeeullah Shaikh et al. Indian J Nephrol. 2023 May-Jun.

Abstract

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-/HCO3- 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.

Keywords: Hemolytic anemia; renal tubular acidosis.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Schematic model of the α-intercalated cell and the H+ secretion in cortical collecting tubule
See this image and copyright information in PMC

References

    1. Fawaz NA, Beshlawi IO, Al Zadjali S, Al Ghaithi HK, Elnaggari MA, Elnour I, et al. dRTA and hemolytic anemia: First detailed description of SLC4A1 A858D mutation in homozygous state. Eur J Haematol. 2012;88:350–5. - PubMed
    1. Batlle D, Ghanekar H, Jain S, Mitra A. Hereditary distal renal tubular acidosis: New understandings. Annu Rev Med. 2001;52:471–84. - PubMed
    1. Alper SL. Genetic diseases of acid-base transporters. Annu Rev Physiol. 2002;64:899–923. - PubMed
    1. Soriano JR. Renal tubular acidosis: The clinical entity. J Am Soc Nephrol. 2002;13:2160–70. - PubMed
    1. Pereira PCB, Miranda DM, Oliveira EA, Simões E Silva AC. Molecular pathophysiology of renal tubular acidosis. Curr Genomics. 2009;10:51–9. - PMC - PubMed

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