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Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab

Patient: Female, 25-year-old Final Diagnosis: Atypical hemolytic uremic syndrome Symptoms: Headache • hypertensive crisis Clinical Procedure: Plasmapharesis Specialty: Nephrology OBJECTIVE: Rare disease BACKGROUND: Hemolytic uremic syndrome (HUS) includes the triad of thrombocytopenia, microangiopat...

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Autor principal: Kannan, Lakshmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158988/
https://www.ncbi.nlm.nih.gov/pubmed/37120715
http://dx.doi.org/10.12659/AJCR.938896
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author Kannan, Lakshmi
author_facet Kannan, Lakshmi
author_sort Kannan, Lakshmi
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description Patient: Female, 25-year-old Final Diagnosis: Atypical hemolytic uremic syndrome Symptoms: Headache • hypertensive crisis Clinical Procedure: Plasmapharesis Specialty: Nephrology OBJECTIVE: Rare disease BACKGROUND: Hemolytic uremic syndrome (HUS) includes the triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. The atypical form of HUS is a rare disease characterized by complement overactivation, and it can be from genetic or acquired causes. Genetic causes involve mutation in one of the factors in the alternative complement pathway or inhibitors. Malignant hypertension and pregnancy are the most important acquired causes. The optimal management of patients with aHUS is with eculizumab, which is recombinant antibody against human complement component C5. CASE REPORT: This report describes the case of a 25-year-old woman with frequent hospitalizations for poorly controlled hypertension who presented at 20 weeks of gestation with headache, vomiting, and a blood pressure of 230/126 mmHg. The patient had acute kidney injury with hematuria and proteinuria, and kidney biopsy showed hypertensive arteriolar nephrosclerosis and fibrinoid arteriolar necrosis consistent with thrombotic microangiopathy. Further work-up with a genetic panel showed heterozygosity for the thrombomodulin (THBD) gene. She was started on treatment with plasma exchange and eculizumab, a recombinant monoclonal antibody that inhibits terminal complement activation at the C5 protein. The patient responded well to the treatment at the time of her initial outpatient follow-up. CONCLUSIONS: This case shows the potential of severe renal manifestation of aHUS, and the need for a kidney biopsy in cases of severe uncontrolled hypertension presenting with kidney injury. If evidence of aHUS is found, prompt treatment with plasma exchange and eculizumab should be initiated.
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spelling pubmed-101589882023-05-05 Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab Kannan, Lakshmi Am J Case Rep Articles Patient: Female, 25-year-old Final Diagnosis: Atypical hemolytic uremic syndrome Symptoms: Headache • hypertensive crisis Clinical Procedure: Plasmapharesis Specialty: Nephrology OBJECTIVE: Rare disease BACKGROUND: Hemolytic uremic syndrome (HUS) includes the triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. The atypical form of HUS is a rare disease characterized by complement overactivation, and it can be from genetic or acquired causes. Genetic causes involve mutation in one of the factors in the alternative complement pathway or inhibitors. Malignant hypertension and pregnancy are the most important acquired causes. The optimal management of patients with aHUS is with eculizumab, which is recombinant antibody against human complement component C5. CASE REPORT: This report describes the case of a 25-year-old woman with frequent hospitalizations for poorly controlled hypertension who presented at 20 weeks of gestation with headache, vomiting, and a blood pressure of 230/126 mmHg. The patient had acute kidney injury with hematuria and proteinuria, and kidney biopsy showed hypertensive arteriolar nephrosclerosis and fibrinoid arteriolar necrosis consistent with thrombotic microangiopathy. Further work-up with a genetic panel showed heterozygosity for the thrombomodulin (THBD) gene. She was started on treatment with plasma exchange and eculizumab, a recombinant monoclonal antibody that inhibits terminal complement activation at the C5 protein. The patient responded well to the treatment at the time of her initial outpatient follow-up. CONCLUSIONS: This case shows the potential of severe renal manifestation of aHUS, and the need for a kidney biopsy in cases of severe uncontrolled hypertension presenting with kidney injury. If evidence of aHUS is found, prompt treatment with plasma exchange and eculizumab should be initiated. International Scientific Literature, Inc. 2023-04-30 /pmc/articles/PMC10158988/ /pubmed/37120715 http://dx.doi.org/10.12659/AJCR.938896 Text en © Am J Case Rep, 2023 https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) )
spellingShingle Articles
Kannan, Lakshmi
Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab
title Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab
title_full Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab
title_fullStr Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab
title_full_unstemmed Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab
title_short Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab
title_sort atypical hemolytic uremic syndrome in a pregnant patient with a thrombomodulin gene variant treated with plasma exchange and eculizumab
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158988/
https://www.ncbi.nlm.nih.gov/pubmed/37120715
http://dx.doi.org/10.12659/AJCR.938896
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