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.

Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1

“…To the best of our knowledge, we demonstrate for the first time the irreversible course of ROx despite early CLKT in patients with IO disease even after a follow‐up of more than 10 years. It is well known, that IO represents the most severe subgroup of PH1 patients, with high mortality and morbidity . However, we have shown that results of CLKT are encouraging, especially that deposition of oxalate into bone decreases after CLKT leading to normal growth .…”

A case of failure to thrive secondary to primary hyperoxaluria type 1

“…Primary hyperoxaluria type 1 (PH1) is a rare genetic autosomal recessive condition (1-3 per million) characterized by oxalate deposition in the kidneys as calcium oxalate stones due to a deficiency in the liver enzyme alanine glyoxylate aminotransferase. This results in nephrocalcinosis and eventually end stage renal disease (ESRD) [1] , [2] , [3] . Definitive diagnosis is obtained through genetic testing.…”

“…As the disease progresses to ESRD, patients will eventually require liver and kidney transplantation [3] . In infants, PH1 frequently presents with failure to thrive (FTT) in the setting of ESRD [ 1 , 2 ]. We describe the initial presentation of hyperoxaluria without renal compromise, complicated by severe FTT that did not respond to standard interventions.…”

Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation

“…When AGT activity is deficient, glyoxylate is converted to oxalate, which then forms insoluble calcium salt deposits in the kidney and other organs (Williams et al, 2009). Human PH1 can be classified into the following forms according to clinical severity: the infantile form with early renal insufficiency, the late-onset form with a good prognosis, and the most common form with recurrent urolithiasis or nephrocalcinosis that is usually accompanied by renal insufficiency (Jellouli et al, 2016). The infantile form is the most severe (Jellouli et al, 2016).…”

“…Human PH1 can be classified into the following forms according to clinical severity: the infantile form with early renal insufficiency, the late-onset form with a good prognosis, and the most common form with recurrent urolithiasis or nephrocalcinosis that is usually accompanied by renal insufficiency (Jellouli et al, 2016). The infantile form is the most severe (Jellouli et al, 2016). The genetic basis for PH1 has been identified in at least 190 published AGXT gene (coding AGT) mutations (Coulter-Mackie et al, 1993–2017; Isiyel et al, 2016).…”