title: Primary hyperoxaluria in infants.
abstract: The infantile form of primary hyperoxaluria type-1 (PH-1) is characterized by a rapid progression to the end-stage renal disease (ESRD) due to both increased oxalate load and reduced glomerular filtration rate. In the literature, data on this form are limited. The purpose of this study is to analyze retrospectively the clinical, biological, and radiological features of children who were diagnosed with PH-1 during the 1(st) year of life. We reviewed the records of all children with PH-1 diagnosed and followed-up at our department between January 1995 and December 2013. Among them, only infants younger than 12 months of age were retrospectively enrolled in the study. Fourteen infants with the median age of two months were enrolled in the study. At diagnosis, 11 patients had ESRD. All patients had nephrocalcinosis and two of them had calculi. The diagnosis was established in nine patients on the basis of the positive family history of PH-1, bilateral nephrocalcinosis, and quantitative crystalluria. In four patients, the diagnosis was made with molecular analysis of DNA. Kidney biopsy contributed to the diagnosis in one patient. During follow-up, two patients were pyridoxine sensitive and preserved renal function. Seven among 11 patients who had ESRD died, four patients are currently undergoing peritoneal dialysis. Children with infantile PH and ESRD are at high risk of early death. Peritoneal dialysis is not a treatment of choice. Combined liver-kidney transplantation is mandatory.
authors.affiliation: Department of Pediatric Nephrology, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Manel
authors.initials: M
authors.lastname: Jellouli
authors.affiliation: Department of Pediatric Nephrology, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Mariem
authors.initials: M
authors.lastname: Ferjani
authors.affiliation: Department of Pediatric Nephrology, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Kamel
authors.initials: K
authors.lastname: Abidi
authors.affiliation: Department of Pediatric Nephrology, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Chokri
authors.initials: C
authors.lastname: Zarrouk
authors.affiliation: Department of Pediatric Nephrology, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Ouns
authors.initials: O
authors.lastname: Naija
authors.affiliation: Department of Clinical Biochemistry, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: J
authors.initials: J
authors.lastname: Abdelmoula
authors.affiliation: Department of Pediatric Nephrology, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Tahar
authors.initials: T
authors.lastname: Gargah
mesh_terms: D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis / Q000473:pathology; D007223:Infant; D007668:Kidney / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D011859:Radiography; D012189:Retrospective Studies