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Case Report

Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)—Two Diseases That Exacerbate Each Other: Case Report

1
District Hospital in Zawiercie, ul. Miodowa 14, 42-400 Zawiercie, Poland
2
Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland
3
Department of Immunology, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland
4
Warsaw Genomics, 01-682 Warsaw, Poland
5
Department of Pediatric Nephrology with Dialysis Division for Children, Public Clinical Hospital No. 1 in Zabrze, 41-800 Zabrze, Poland
6
Department of Anaesthesiology and Intensive Therapy, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland
7
Department of Histology and Cell Pathology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland
8
Department of Pediatric Hematology and Oncology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice ul. 3 Maja 13/15, 41-800 Zabrze, Poland
*
Author to whom correspondence should be addressed.
These authors have contributed equally to this work and share the first authorship.
Student at Dpt. of Pediatrics. Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland.
Academic Editors: Lisa M. Harrison-Bernard and Giuseppe Murdaca
Int. J. Mol. Sci. 2021, 22(17), 9479; https://doi.org/10.3390/ijms22179479
Received: 14 July 2021 / Revised: 21 August 2021 / Accepted: 27 August 2021 / Published: 31 August 2021
(This article belongs to the Special Issue Molecular Mechanisms and Therapies for Kidney Diseases)
Hemolytic uremic syndrome (HUS) is defined by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI). Atypical HUS (aHUS), distinguished by its etiology, is caused by uncontrolled overactivation of the alternative complement pathway. The correct diagnosis of aHUS is complex and involves various gene mutations. Severe combined immunodeficiency (SCID), characterized by severe T-cell lymphocytopenia and a lack of antigen-specific T-cell and B-cell immune responses, is of seldom occurrence. In 10–15% of pediatric patients, SCID is caused by adenosine deaminase (ADA) deficiency. The authors describe the case of a boy who suffered from both aHUS and ADA-deficient SCID. At the age of 9 months, the patient presented acute kidney injury with anuria and coagulopathy. The diagnosis of aHUS was established on the basis of alternative complement pathway deregulation and disease-associated gene mutations. Further examination revealed immune system failure and, at the age of 13 months, the ADA deficiency was confirmed by genetic tests and the boy was diagnosed with ADA-SCID. ADA SCID has recently been described as a possible triggering factor of aHUS development and progression. However, more research is required in this field. Nevertheless, it is crucial in clinical practice to be aware of these two co-existing life-threatening diseases. View Full-Text
Keywords: atypical hemolytic uremic syndrome; thrombotic microangiopathy; severe combined immunodeficiency; adenosine deaminase deficiency; children atypical hemolytic uremic syndrome; thrombotic microangiopathy; severe combined immunodeficiency; adenosine deaminase deficiency; children
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MDPI and ACS Style

Bogdał, A.; Badeński, A.; Pac, M.; Wójcicka, A.; Badeńska, M.; Didyk, A.; Trembecka-Dubel, E.; Dąbrowska-Leonik, N.; Walaszczyk, M.; Matysiak, N.; Morawiec-Knysak, A.; Szczepański, T.; Szczepańska, M. Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)—Two Diseases That Exacerbate Each Other: Case Report. Int. J. Mol. Sci. 2021, 22, 9479. https://doi.org/10.3390/ijms22179479

AMA Style

Bogdał A, Badeński A, Pac M, Wójcicka A, Badeńska M, Didyk A, Trembecka-Dubel E, Dąbrowska-Leonik N, Walaszczyk M, Matysiak N, Morawiec-Knysak A, Szczepański T, Szczepańska M. Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)—Two Diseases That Exacerbate Each Other: Case Report. International Journal of Molecular Sciences. 2021; 22(17):9479. https://doi.org/10.3390/ijms22179479

Chicago/Turabian Style

Bogdał, Anna, Andrzej Badeński, Małgorzata Pac, Anna Wójcicka, Marta Badeńska, Agnieszka Didyk, Elżbieta Trembecka-Dubel, Nel Dąbrowska-Leonik, Małgorzata Walaszczyk, Natalia Matysiak, Aurelia Morawiec-Knysak, Tomasz Szczepański, and Maria Szczepańska. 2021. "Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)—Two Diseases That Exacerbate Each Other: Case Report" International Journal of Molecular Sciences 22, no. 17: 9479. https://doi.org/10.3390/ijms22179479

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