Primary hyperoxaluria type 1 in Tunisian children.

[primary hyperoxaluria type 1]

To determine the clinical , biological , and radiological futures of primary hyper-oxaluria type 1 in Tunisian children , we retrospectively studied 44 children with primary hyper-oxaluria type 1 who were treated in our center from 1995 to 2009 . The diagnosis was established by quantitative urinary oxalate excretion . In patients with renal impairment , the diagnosis was made by infrared spectroscopy of stones or kidney biopsies . The male-to -female ratio was 1 :2 . The median age at diagnosis was 5 .75 years . About 43 % of the patients were diagnosed before the age of five years with initial symptoms dominated by uremia . Four patients were asymptomatic and diagnosed by sibling screenings of known patients . Nephrocalcinosis was present in all the patients ; it was cortical in 34 %, medullary in 32 %, and global in 34 %. At diagnosis , 12 (27 %) children were in end-stage renal disease . Pyridoxine response , which is defined by a reduction in urine oxalate excretion of 60 % or more , was obtained in 27 % of the cases . In the majority of patients , the clinical expression of primary hyperoxaluria type 1 was characterized by nephrocalcinosis , urolithiasis , and renal failure ; pyridoxine sensitivity was associated with better outcome .

Diseases
Validation

Diseases presenting "end-stage renal disease" symptom

cystinuria

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

primary hyperoxaluria type 1

von hippel-lindau disease

This symptom has already been validated