Detection of primary hyperoxaluria type 2 (L-glyceric aciduria) in patients with maintained renal function or end-stage renal failure.
Primary hyperoxaluria (PH) type 1 and type 2 are autosomal recessive defects of oxalate metabolism resulting from glyoxylate accumulation which occurs by two distinct pathways. PH1 is associated to glycolic aciduria; PH2 to L-glyceric aciduria. Because hyperoxaluria leads to nephrolithiasis or nephrocalcinosis in both, they can be differentiated only through detection of the associated acidurias. However, glycolate and L-glycerate assays are not widely available and, in the setting of ESRF, diagnosis is hampered by a number of misleading events. At any stage of the disease diagnosis is crucial because there are differences between the two forms in clinical behaviour, long-term prognosis, and treatment. In this paper we outline diagnostic criteria for identification of PH2 in two patients, one with maintained renal function and one with ESRF on CPD, based on the use of a novel HPLC assay of L-glycerate in different body fluids. With the routine application of this procedure PH2 has been identified in two of 23 patients fulfilling criteria for diagnosis of PH. This suggests that the type 2 variant of PH may occur more frequently than so far suspected, and should be tested for even in the setting of ESRF.
Marangella
M
M
Renal Stone Laboratory, Ospedale Mauriziano Umberto I, Torino, Italy.
Petrarulo
M
M
Cosseddu
D
D
Vitale
C
C
Cadario
A
A
Barbos
M P
MP
Gurioli
L
L
Linari
F
F
D002675:Child, Preschool; D005260:Female; D005988:Glyceric Acids / Q000378:metabolism; D006016:Glycolates / Q000378:metabolism; D006801:Humans; D006959:Hyperoxaluria / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D007676:Kidney Failure, Chronic / Q000150:complications / Q000378:metabolism* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D010070:Oxalates / Q000378:metabolism; D017582:Renal Replacement Therapy
D005988:Glyceric Acids; D006016:Glycolates; D010070:Oxalates; C042971:glyceric acid