Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort.

[primary hyperoxaluria type 1]

Primary hyperoxaluria Type 1 , an inherited disorder with increased endogenous oxalate production , leads to the development of urolithiasis , nephrocalcinosis and end-stage renal disease (ESRD ). Contrary to the general belief that patients diagnosed during adulthood experience a relatively mild course of disease , we were confronted with several cases of ESRD caused by previously undiagnosed primary hyperoxaluria .To study renal and patient survival in relation with genotype , age at onset of disease and therapeutic delay , we performed a nationwide search among all Dutch nephrologists and paediatric nephrologists .Of the 79 included patients , 38 % was diagnosed at an adult age . ESRD was present at the time of diagnosis in 26 % of paediatric diagnosed patients versus 52 % of adult-diagnosed patients (P = 0 .021 ). Homozygosity for the pyridoxine-responsive p .Gly 170 A rg or p .Phe 152 I le genotype was found in 26 % of paediatric diagnosed patients versus 68 % of adult-diagnosed patients (P < 0 .001 ). Of homozygous p .Gly 170 Arg or p .Phe 152 Ile patients , 48 % developed ESRD at a median age of 37 years , compared with 48 % in those with other mutations at a median age of 0 .5 years (P < 0 .001 ). Of the 16 patients found through family screening , 81 % had a preserved renal function .The high prevalence of pyridoxine-responsive genotypes and favourably prognosis of timely treatment warrant early diagnostic screening for primary hyperoxaluria Type 1 in patients with recurrent urolithiasis . This will preserve kidney function and prevent diagnosis of adult diagnosed patients in ESRD .

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