Primary hyperoxaluria type 2.
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Primary hyperoxaluria type 2. / Kemper, Markus J.; Conrad, S; Müller-Wiefel, D E.
in: EUR J PEDIATR, Jahrgang 156, Nr. 7, 7, 1997, S. 509-512.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Primary hyperoxaluria type 2.
AU - Kemper, Markus J.
AU - Conrad, S
AU - Müller-Wiefel, D E
PY - 1997
Y1 - 1997
N2 - Primary hyperoxaluria type 2 (PH2) is a rare disease with only 24 patients reported in the literature so far. It should be considered in any patient presenting with urolithiasis or nephrocalcinosis due to hyperoxaluria. The metabolic defect is deficiency of D-glycerate dehydrogenase/glyoxylate reductase leading to characteristic hyperoxaluria and excretion of L-glycerate, the cornerstone of diagnosis of PH 2. Although development of terminal renal failure seems to be less prevalent than in PH 1, recent reports indicate that chronic as well as terminal renal insufficiency may occur. Therefore specific therapeutic measures should aim at reduction of urinary calcium oxalate saturation by potassium citrate or pyrophosphate to reduce the incidence of nephrolithiasis and nephrocalcinosis and thus improve renal survival. Secondary complications (obstruction, urinary tract infections and pyelonephritis) must be avoided. In patients with terminal renal failure isolated renal transplantation seems to carry a high risk of disease recurrence.
AB - Primary hyperoxaluria type 2 (PH2) is a rare disease with only 24 patients reported in the literature so far. It should be considered in any patient presenting with urolithiasis or nephrocalcinosis due to hyperoxaluria. The metabolic defect is deficiency of D-glycerate dehydrogenase/glyoxylate reductase leading to characteristic hyperoxaluria and excretion of L-glycerate, the cornerstone of diagnosis of PH 2. Although development of terminal renal failure seems to be less prevalent than in PH 1, recent reports indicate that chronic as well as terminal renal insufficiency may occur. Therefore specific therapeutic measures should aim at reduction of urinary calcium oxalate saturation by potassium citrate or pyrophosphate to reduce the incidence of nephrolithiasis and nephrocalcinosis and thus improve renal survival. Secondary complications (obstruction, urinary tract infections and pyelonephritis) must be avoided. In patients with terminal renal failure isolated renal transplantation seems to carry a high risk of disease recurrence.
KW - Humans
KW - Prognosis
KW - Kidney Failure, Chronic/etiology
KW - Hyperoxaluria, Primary/complications/diagnosis/physiopathology/therapy
KW - Nephrocalcinosis/etiology
KW - Urinary Calculi/etiology
KW - Humans
KW - Prognosis
KW - Kidney Failure, Chronic/etiology
KW - Hyperoxaluria, Primary/complications/diagnosis/physiopathology/therapy
KW - Nephrocalcinosis/etiology
KW - Urinary Calculi/etiology
M3 - SCORING: Journal article
VL - 156
SP - 509
EP - 512
JO - EUR J PEDIATR
JF - EUR J PEDIATR
SN - 0340-6199
IS - 7
M1 - 7
ER -
