Mother and Child Reunion in 'Hypertensive' End-Stage Renal Disease: Will They Complement Each Other?
| Autor: | van Paassen P, Timmermans Sameg |
|---|---|
| Přispěvatelé: | Interne Geneeskunde, MUMC+: MA Med Staf Artsass Interne Geneeskunde (9), RS: Carim - B02 Vascular aspects thrombosis and Haemostasis, RS: CARIM - R1.02 - Vascular aspects thrombosis and haemostasis, MUMC+: MA Nefrologie (9), MUMC+: MA Klinische Immunologie (9) |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
030232 urology & nephrology Complement Disease 030204 cardiovascular system & hematology urologic and male genital diseases End stage renal disease 03 medical and health sciences End-stage renal disease 0302 clinical medicine Internal medicine Atypical hemolytic uremic syndrome medicine Genetics Experimental Nephrology and Genetics: Case Study of Genetic Interest Hemolytic uremic syndrome CD46 Kidney transplantation Kidney Acute renal injury business.industry Cancer medicine.disease female genital diseases and pregnancy complications Complement system medicine.anatomical_structure Hypertension HEMOLYTIC-UREMIC SYNDROME business AHUS |
| Zdroj: | The Nephron Journals, 142(3), 253-257. Karger |
| ISSN: | 1660-8151 |
| Popis: | Severe hypertension can lead to irreversible kidney failure and end-stage renal disease (ESRD) and vice versa. Patients are often classified as hypertensive ESRD with no confirmative proof and the true cause of disease can therefore be missed, affecting outcomes. We present a case of chronic thrombotic microangiopathy (TMA) after kidney transplantation in a recipient who had been classified as hypertensive ESRD and found to have a genetic defect in CD46, a transmembrane protein that regulates complement activation, indicating atypical hemolytic uremic syndrome (HUS). The pathogenic variant in CD46 was also found in the mother who donated the kidney, indicating that the TMA occurred on the background of atypical HUS instead of severe hypertension. The patient died from disseminated cancer originated in the mother's kidney. Knowledge of the genetic back-ground would have prevented recurrent disease and the cancer to occur. Patients classified as hypertensive ESRD suspect for TMA should therefore be screened for variants in complement genes to make informed decisions and save kidneys. (c) 2019 The Author(s) Published by S. Karger AG, Basel |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|