Recent advances in the understanding, diagnosis and treatment of primary hyperoxaluria type 1

Danpure, Christopher J.

doi:10.1007/bf01800727

Cited by 38 publications

(17 citation statements)

References 83 publications

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“…Type 1 (PH 1), which is relatively more common, has an annual incidence of approximately two to three patients per million and is caused by deficiency of liver-specific peroxisomal enzyme alanine-glyoxylate aminotransferase (AGA), the gene of which, AGXT has been sequenced and located on chromosome 2q 37.3. PH 1 grossly fits three clinical presentations: (a) a rare infantile form with early nephrocalcinosis and rapid kidney failure; (b) a rare late onset form with stone passage in late adulthood; (c) the most common form with recurrent urolithiasis and progressive renal failure leading to diagnosis of PH 1 in childhood or adolescence 3,4 .…”

Section: Figure 2 X-ray Kub Discussionmentioning

confidence: 95%

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Multiple urinary calculi caused by primary hyperoxaluria

Alwis¹,

Gamage

Jayawardena

et al. 2008

Sri Lanka J Child Health

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Section: Figure 2 X-ray Kub Discussionmentioning

confidence: 95%

“…Supportive treatment with sodium or potassium citrate and orthophosphate; which are potent inhibitors of calcium oxalate is suggested in the literature [3][4] , and we are planning to start potassium citrate in our patient.…”

Section: Figure 2 X-ray Kub Discussionmentioning

confidence: 99%

Multiple urinary calculi caused by primary hyperoxaluria

Alwis¹,

Gamage

Jayawardena

et al. 2008

Sri Lanka J Child Health

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Section: Discussionmentioning

confidence: 99%

“…4 In 1986, Danpure and Jennings found a low or absent activity of liver-specific peroxisomal alanine-glyoxylate aminotransferase, which normally catalyzes the transamination of glyoxylate to glycine, to be causal in patients with PH I. 8 Less AGT activity may also be provoked by peroxisomal to mitochondrial mistargeting, with inefficient AGT in the mitochondrion.…”

Section: Discussionmentioning

confidence: 99%

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Primary Hyperoxaluria Type I and Urolithiasis in Children: Report of Three Cases

et al. 1997

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Primary hyperoxaluria type I (PH I) is an autosomal recessive inherited disease 1,2 with an annual incidence of approximately one to two patients per million. 3 It is caused by a low or absent activity of the liver-specific peroxisomal alanine-glyoxylate aminotransferase, 4 leading to an increase in urinary excretion of oxalate and glycolate. Thereby, urinary saturation for calcium-oxalate is elevated, leading to crystal formation, urolithiasis and/or medullary nephrocalcinosis. Disease progression causes systemic oxalosis with deposition of oxalate in parenchymatous organs, bones and retina.1 In most patients this disorder is not recognized until mid-childhood or early adulthood, due to symptoms mainly related to recurrent renal stones or chronic renal failure.5 Therefore, although the first symptoms are usually present in early childhood, the diagnosis of this devastating disease is frequently not made until systemic signs and end-stage renal disease are present. The prognosis for the untreated disease is poor, leading to death around the age of 20 due to renal failure, or even earlier in the infantile forms of PH I. Early detection and metaphylaxis is crucial in order to improve disease prognosis. 5 The appropiate urologie evaluation, management and treatment is still controversial.We report here the case of three children from a Libyan family diagnosed to have PH I. The family consisted of unrelated healthy parents with three healthy sisters and two healthy brothers. There were two neonatal deaths of unknown causes. There were no other known cases of PH in the extended family.The investigations and the clinical course are described, as well as our experience with different models of stone removals. Finally, the role of extra-corporeal shock wave lithotripsy (ESWL) in the treatment of stones in PH I is discussed. Case Reports Case 1Together with his two older siblings, a seven-year-old Libyan boy was referred to the University Children's Hospital for a diagnostic workup. He had a previous history of recurrent urolithiasis and end-stage renal failure.Maintenance hemodialysis was started in April 1994 in Libya after a right-sided ureterolithotomy to remove an obstructive stone. Renal failure had already been diagnosed before the operation, and hypertension, anemia and growth failure were present. Oxalate depositions on the retina were seen by fundus examination.Upon admission, abdominal x-ray showed multiple renal stones of various sizes ( Figure 1) and medullary nephrocalcinosis was seen in ultrasound. Serum creatinine was 733 μmol/L, blood urea was 31.6 mmol/L, plasma oxalate was 72 μmol/L (normal 2-6 μmol/L 6 ). Urinary oxalate excretion was "low" due to end-stage renal failure (0.3 mmol/1.73 m 2 /24h), oxalate/creatinine ratio was 199 mmol/mol (age-related normal value: 38-132 mmol/L 7 ), the ratio of glycolate over creatinine in urine was 88 mmol/mol (normal 18-92 mmol/mol 7 ). A liver biopsy specimen showed a decreased antiglobulin test (AGT) of only 1.5 μmol/h/mg protein (normal 3.2-9.0 8 ) and only a we...

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