Primary hyperoxaluria in a compound heterozygote infant.
BACKGROUND
Primary hyperoxaluria type 1 is a rare disorder caused by a defect in the hepatic metabolism of glyoxylate. Cases presenting in infancy are very uncommon and often have a severe course leading to early end-stage renal failure.


METHODS
We treated a case of early presentation of primary hyperoxaluria type 1 and reviewed the relevant literature.


RESULTS
A 4-month-old female infant was admitted to our hospital because of acute renal failure and nephrocalcinosis. Mutational analysis of alanine-glyoxylate aminotransferase gene revealed compound heterozygosity in the infant, confirming the development of primary hyperoxaluria type 1. A few weeks later, the condition of the infant worsened during an interdialytic period and died.


CONCLUSIONS
Interest of this case is based on the coexistence of two mutations of alanine-glyoxylate aminotransferase gene recently reported, and it confirms the severe course of the disease when it presents in infancy. It also highlights the importance of the association of nephrocalcinosis and urolithiasis as key diagnostic manifestations of primary hyperoxaluria type 1.
Mayordomo-Colunga
Juan
J
Pediatric Nephrology, Department of Pediatrics, Hospital Universitario Central de Asturias & University of Oviedo, Oviedo, Spain. jmcolunga@hotmail.com
Riverol
Debora
D
Salido
Eduardo
E
Santos
Fernando
F
D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D007223:Infant; D009397:Nephrocalcinosis / Q000209:etiology / Q000235:genetics; D000637:Transaminases / Q000235:genetics; D052878:Urolithiasis / Q000209:etiology / Q000235:genetics
D000637:Transaminases; C019635:Alanine-glyoxylate transaminase