Abstract
Background. Hyperoxaluria may be idiopathic, secondary, or due to primary hyperoxaluria (PH). Hepatic alanine:glyoxylate aminotransferase (AGT) or glyoxylate/hydroxypyruvate reductase (GR/HPR) deficiency causes PHI or PHII, respectively. Hepatic glycolate oxidase (GO) is a candidate enzyme for a third form of inherited hyperoxaluria. Methods. Six children were identified with marked hyperoxaluria, urolithiasis, and normal hepatic AGT (N = 5) and GR/HPR (N = 4). HPR was below normal and GR not measured in one. Of an affected sibling pair, only one underwent biopsy. GO mutation screening was performed, and dietary oxalate (Dietox), enteric oxalate absorption (EOA) measured using [13C2] oxalate, renal clearance (GFR), fractional oxalate excretion (FEox) in the children, and urine oxalate in first- degree relatives (FDR) to understand the etiology of the hyperoxaluria. Results. Mean presenting age was 19.2 months and urine oxalate 1.3 ± 0.5 mmol/1.73 m2/24 h (mean ± SD). Two GO sequence changes (T754C, IVS3 - 49 C>G) were detected which were not linked to the hyperoxaluria. Dietox was 42 ± 31 mg/day. EOA was 9.4 ± 3.6%, compared with 7.6 > 1.2% in age-matched controls (P = 0.33). GFR was 90 ± 19 mL/min/1.73 m2 and FEox 4.2 ± 1.4. Aside from the two brothers, hyperoxaluria was not found in FDR. Conclusions. These patients illustrate a novel form of hyperoxaluria and urolithiasis, without excess Dietox, enteric hyper-absorption, or hepatic AGT, GR/HPR deficiency. Alterations in pathways of oxalate synthesis, in liver or kidney, or in renal tubular oxalate handling are possible explanations. The affected sibling pair suggests an inherited basis.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 392-400 |
| Number of pages | 9 |
| Journal | Kidney International |
| Volume | 62 |
| Issue number | 2 |
| DOIs | |
| State | Published - 2002 |
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Keywords
- Alanine:glyoxylate aminotransferase
- Calcium oxalate urolithiasis
- Enteric oxalate absorption
- Kidney stones
- Stone formation
- Urolithiasis
ASJC Scopus subject areas
- Nephrology
Cite this
Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II. / Monico, Carla G.; Persson, Mai; Ford, G. Charles; Rumsby, Gill; Milliner, Dawn S.
In: Kidney International, Vol. 62, No. 2, 2002, p. 392-400.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II
AU - Monico, Carla G.
AU - Persson, Mai
AU - Ford, G. Charles
AU - Rumsby, Gill
AU - Milliner, Dawn S.
PY - 2002
Y1 - 2002
N2 - Background. Hyperoxaluria may be idiopathic, secondary, or due to primary hyperoxaluria (PH). Hepatic alanine:glyoxylate aminotransferase (AGT) or glyoxylate/hydroxypyruvate reductase (GR/HPR) deficiency causes PHI or PHII, respectively. Hepatic glycolate oxidase (GO) is a candidate enzyme for a third form of inherited hyperoxaluria. Methods. Six children were identified with marked hyperoxaluria, urolithiasis, and normal hepatic AGT (N = 5) and GR/HPR (N = 4). HPR was below normal and GR not measured in one. Of an affected sibling pair, only one underwent biopsy. GO mutation screening was performed, and dietary oxalate (Dietox), enteric oxalate absorption (EOA) measured using [13C2] oxalate, renal clearance (GFR), fractional oxalate excretion (FEox) in the children, and urine oxalate in first- degree relatives (FDR) to understand the etiology of the hyperoxaluria. Results. Mean presenting age was 19.2 months and urine oxalate 1.3 ± 0.5 mmol/1.73 m2/24 h (mean ± SD). Two GO sequence changes (T754C, IVS3 - 49 C>G) were detected which were not linked to the hyperoxaluria. Dietox was 42 ± 31 mg/day. EOA was 9.4 ± 3.6%, compared with 7.6 > 1.2% in age-matched controls (P = 0.33). GFR was 90 ± 19 mL/min/1.73 m2 and FEox 4.2 ± 1.4. Aside from the two brothers, hyperoxaluria was not found in FDR. Conclusions. These patients illustrate a novel form of hyperoxaluria and urolithiasis, without excess Dietox, enteric hyper-absorption, or hepatic AGT, GR/HPR deficiency. Alterations in pathways of oxalate synthesis, in liver or kidney, or in renal tubular oxalate handling are possible explanations. The affected sibling pair suggests an inherited basis.
AB - Background. Hyperoxaluria may be idiopathic, secondary, or due to primary hyperoxaluria (PH). Hepatic alanine:glyoxylate aminotransferase (AGT) or glyoxylate/hydroxypyruvate reductase (GR/HPR) deficiency causes PHI or PHII, respectively. Hepatic glycolate oxidase (GO) is a candidate enzyme for a third form of inherited hyperoxaluria. Methods. Six children were identified with marked hyperoxaluria, urolithiasis, and normal hepatic AGT (N = 5) and GR/HPR (N = 4). HPR was below normal and GR not measured in one. Of an affected sibling pair, only one underwent biopsy. GO mutation screening was performed, and dietary oxalate (Dietox), enteric oxalate absorption (EOA) measured using [13C2] oxalate, renal clearance (GFR), fractional oxalate excretion (FEox) in the children, and urine oxalate in first- degree relatives (FDR) to understand the etiology of the hyperoxaluria. Results. Mean presenting age was 19.2 months and urine oxalate 1.3 ± 0.5 mmol/1.73 m2/24 h (mean ± SD). Two GO sequence changes (T754C, IVS3 - 49 C>G) were detected which were not linked to the hyperoxaluria. Dietox was 42 ± 31 mg/day. EOA was 9.4 ± 3.6%, compared with 7.6 > 1.2% in age-matched controls (P = 0.33). GFR was 90 ± 19 mL/min/1.73 m2 and FEox 4.2 ± 1.4. Aside from the two brothers, hyperoxaluria was not found in FDR. Conclusions. These patients illustrate a novel form of hyperoxaluria and urolithiasis, without excess Dietox, enteric hyper-absorption, or hepatic AGT, GR/HPR deficiency. Alterations in pathways of oxalate synthesis, in liver or kidney, or in renal tubular oxalate handling are possible explanations. The affected sibling pair suggests an inherited basis.
KW - Alanine:glyoxylate aminotransferase
KW - Calcium oxalate urolithiasis
KW - Enteric oxalate absorption
KW - Kidney stones
KW - Stone formation
KW - Urolithiasis
UR - http://www.scopus.com/inward/record.url?scp=0035991408&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035991408&partnerID=8YFLogxK
U2 - 10.1046/j.1523-1755.2002.00468.x
DO - 10.1046/j.1523-1755.2002.00468.x
M3 - Article
C2 - 12110000
AN - SCOPUS:0035991408
VL - 62
SP - 392
EP - 400
JO - Kidney International
JF - Kidney International
SN - 0085-2538
IS - 2
ER -