Hyperoxaluria: An early diagnosis will allow a timely combined renal and liver transplantations to avoid irreversible damages to all other organs-Reference-Cited by-同舟云学术

Hyperoxaluria: An early diagnosis will allow a timely combined renal and liver transplantations to avoid irreversible damages to all other organs

Published:2021-12-01 Issue:4 Volume:9 Page:318-322
ISSN:2224-4018
Container-title:Journal of Translational Internal Medicine
language:en
Short-container-title:

Author:

Kottos Elisa¹,Adams Brigitte²,Biarent Dominique¹,Beretta-Piccoli Xavier¹,Ismaili Khalid²,De Bels David³,Honore Patrick M.³,Redant Sebastien¹³

Affiliation:

1. 1 Department of Emergency Medicine, Queen Fabiola Children’s University Hospital (Hopital Universitaire des enfants Reine Fabiola), Free University of Brussels (UniversitéLibre de Bruxelles, ULB) , Brussels , Belgium ;

2. 2 Department of Nephrology, Queen Fabiola Children’s University Hospital (Hopital Universitaire des enfants Reine Fabiola), Free University of Brussels (UniversitéLibre de Bruxelles, ULB) , Brussels , Belgium ;

3. 3 Department of Intensive Care Nephrology, Brugmann University Hospital, Free University of Brussels (UniversitéLibre de Bruxelles, ULB) , Brussels , Belgium

Abstract

ABSTRACT A 4-month-old patient was admitted to the emergency room for vomiting, weight gain, food refusal and hypertension. Blood gases showed a metabolic acidosis with increased anion gap. Laboratory finding revealed severe renal failure (creatinine 8 mg/dL). Renal ultrasound showed an important hyperechogenicity of the parenchyma with loss of cortico-medullar differentiation suggesting a nephronophytosis. Genetic testing was negative. Urine oxalate levels were increased to 140 μmol/L. New genetic tests were positive for type I hyperoxaluria. The authors discuss the management of hyperoxaluria.

Publisher

Walter de Gruyter GmbH

Subject

Internal Medicine

Link

https://www.sciendo.com/pdf/10.2478/jtim-2020-000X

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