Neonatal onset atypical hemolytic uremic syndrome successfully treated with eculizumab
Besbas, Nesrin ; Gulhan, Bora ; Karpman, Diana LU
; Topaloglu, Rezan
; Duzova, Ali
; Korkmaz, Emine
and Ozaltin, Fatih
(2013)
In Pediatric Nephrology
28(1).
p.155-158
- Abstract
- Atypical hemolytic uremic syndrome (aHUS) is characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Neonatal cases are extremely uncommon. Plasma therapy is the first choice therapy in patients with aHUS based on the belief of an underlying complement dysregulation. Alternatively, eculizumab, which targets complement 5, is used to block complement activation. Sudden onset macroscopic hematuria, hypertension, and bruises over the entire body were noted in a 5 day-old newborn. Investigations revealed hemolytic anemia, thrombocytopenia, renal impairment, and a low serum C3, leading to the diagnosis of aHUS. Fresh frozen plasma (FFP) infusions and peritoneal dialysis for acute kidney injury... (More)
- Atypical hemolytic uremic syndrome (aHUS) is characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Neonatal cases are extremely uncommon. Plasma therapy is the first choice therapy in patients with aHUS based on the belief of an underlying complement dysregulation. Alternatively, eculizumab, which targets complement 5, is used to block complement activation. Sudden onset macroscopic hematuria, hypertension, and bruises over the entire body were noted in a 5 day-old newborn. Investigations revealed hemolytic anemia, thrombocytopenia, renal impairment, and a low serum C3, leading to the diagnosis of aHUS. Fresh frozen plasma (FFP) infusions and peritoneal dialysis for acute kidney injury were initiated. This approach yielded full renal and hematological remission. The patient was discharged with FFP infusions, but subsequently developed three life-threatening disease recurrences at 1, 3, and 6 months of age. The last relapse presented with uncontrolled hypertension and impaired renal function while the patient was receiving FFP infusions. After the first dose of eculizumab, his renal and hematological parameters returned to normal and his blood pressure normalized. Genetic screening of the CFH gene revealed a novel homozygous p. Tyr1177Cys mutation. Eculizumab can be considered as an alternative to plasma therapy in the treatment of specific patients with aHUS, even in infants. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3401208
- author
- Besbas, Nesrin
; Gulhan, Bora
; Karpman, Diana
LU
; Topaloglu, Rezan
; Duzova, Ali
; Korkmaz, Emine
and Ozaltin, Fatih
- organization
- publishing date
- 2013
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Atypical hemolytic uremic syndrome, Complement factor H mutation, Eculizumab, Newborn
- in
- Pediatric Nephrology
- volume
- 28
- issue
- 1
- pages
- 155 - 158
- publisher
- Springer
- external identifiers
-
- wos:000311501500021
- scopus:84870411202
- pmid:22956028
- ISSN
- 1432-198X
- DOI
- 10.1007/s00467-012-2296-4
- language
- English
- LU publication?
- yes
- id
- b5752b72-cb9b-4b04-b275-82d5e1c60c79 (old id 3401208)
- date added to LUP
- 2016-04-01 14:20:42
- date last changed
- 2022-04-06 18:06:43
@article{b5752b72-cb9b-4b04-b275-82d5e1c60c79,
abstract = {{Atypical hemolytic uremic syndrome (aHUS) is characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Neonatal cases are extremely uncommon. Plasma therapy is the first choice therapy in patients with aHUS based on the belief of an underlying complement dysregulation. Alternatively, eculizumab, which targets complement 5, is used to block complement activation. Sudden onset macroscopic hematuria, hypertension, and bruises over the entire body were noted in a 5 day-old newborn. Investigations revealed hemolytic anemia, thrombocytopenia, renal impairment, and a low serum C3, leading to the diagnosis of aHUS. Fresh frozen plasma (FFP) infusions and peritoneal dialysis for acute kidney injury were initiated. This approach yielded full renal and hematological remission. The patient was discharged with FFP infusions, but subsequently developed three life-threatening disease recurrences at 1, 3, and 6 months of age. The last relapse presented with uncontrolled hypertension and impaired renal function while the patient was receiving FFP infusions. After the first dose of eculizumab, his renal and hematological parameters returned to normal and his blood pressure normalized. Genetic screening of the CFH gene revealed a novel homozygous p. Tyr1177Cys mutation. Eculizumab can be considered as an alternative to plasma therapy in the treatment of specific patients with aHUS, even in infants.}},
author = {{Besbas, Nesrin and Gulhan, Bora and Karpman, Diana and Topaloglu, Rezan and Duzova, Ali and Korkmaz, Emine and Ozaltin, Fatih}},
issn = {{1432-198X}},
keywords = {{Atypical hemolytic uremic syndrome; Complement factor H mutation; Eculizumab; Newborn}},
language = {{eng}},
number = {{1}},
pages = {{155--158}},
publisher = {{Springer}},
series = {{Pediatric Nephrology}},
title = {{Neonatal onset atypical hemolytic uremic syndrome successfully treated with eculizumab}},
url = {{http://dx.doi.org/10.1007/s00467-012-2296-4}},
doi = {{10.1007/s00467-012-2296-4}},
volume = {{28}},
year = {{2013}},
}