Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome.
BACKGROUND
Primary hyperoxaluria type 1 (PH1) is a phenotypically heterogeneous disease. To date the relationship between biochemical parameters and outcome is unclear. We therefore undertook a national cohort study on biochemical and clinical parameters and outcome in PH1.


METHODS
Review of medical charts of all Dutch PH1 patients, who were identified by sending questionnaires to all Dutch nephrologists for children and adults.


RESULTS
Fifty-seven patients were identified. The prevalence and incidence rates were 2.9/10(6) and 0.15/10(6)/year, respectively. Median age at diagnosis was 7.3 years (range 0-57). Seventeen (30%) patients were older than 18 years at time of diagnosis, of whom 10 (59%) presented with end-stage renal disease (ESRD), in contrast to only nine (23%) of those aged under 18 years. Median age at initial symptoms was 6.0 years (range 0-50). In four of nine patients with infantile PH1, normal renal function was preserved after a median follow-up of 7.7 years (range 0.1-16). Progression to renal insufficiency was associated with the presence of nephrocalcinosis, as assessed by ultrasound (relative risk=1.8; 95% CI, 1.0-3.4) and with pyridoxine-unresponsiveness (relative risk=2.2; 95% CI, 1.1-4.2) but not with age at presentation, the extent of hyperoxaluria, or AGT activity. No apparent nephrocalcinosis was found in five of the 19 patients who presented with ESRD.


CONCLUSIONS
Although more than one-half of the PH1 patients have symptoms under the age of 10 years, PH1 can present at any age. In adults, PH1 presents predominantly with ESRD, which may be due to misinterpretation of early symptoms. Although nephrocalcinosis is correlated with development of renal insufficiency, the latter can occur even in the absence of nephrocalcinosis. Pyridoxine sensitivity is associated with better outcome in PH1.
van Woerden
Christiaan S
CS
Laboratory for Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital AMC, 1100 DD Amsterdam, The Netherlands.
Groothoff
Jaap W
JW
Wanders
Ronald J A
RJ
Davin
Jean-Claude
JC
Wijburg
Frits A
FA
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000145:classification / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology*; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007676:Kidney Failure, Chronic / Q000453:epidemiology / Q000209:etiology / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009397:Nephrocalcinosis / Q000453:epidemiology / Q000209:etiology; D009426:Netherlands / Q000453:epidemiology; D015995:Prevalence; D006435:Renal Dialysis; D012306:Risk; D016019:Survival Analysis