Alternative titles; symbols
SNOMEDCT: 65520001; ORPHA: 416, 93598; DO: 0111670;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 2q37.3 | Hyperoxaluria, primary, type 1 | 259900 | Autosomal recessive | 3 | AGXT | 604285 |
A number sign (#) is used with this entry because of evidence that type I primary hyperoxaluria (HP1) is caused by homozygous or compound heterozygous mutation in the gene encoding alanine-glyoxylate aminotransferase (AGXT; 604285) on chromosome 2q37.
Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae (Takada et al., 1990; Danpure et al., 1989; Williams et al., 2009)
Genetic Heterogeneity of Primary Hyperoxaluria
Type II primary hyperoxaluria (HP2; 260000) is caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR; 604296) on chromosome 9. Type III primary hyperoxaluria (HP3; 613616) is caused by mutation in the mitochondrial dihydrodipicolinate synthase-like gene (DHDPSL; 613597) on chromosome 10q24.
Williams and Smith (1968) were able to distinguish 2 distinct genetic disorders among cases of primary hyperoxaluria. The largest proportion of patients had glycolic aciduria and hyperoxaluria, marked reduction in metabolism of C14-labeled glyoxylate or glycolate to carbon dioxide, increased conversion of glyoxylate to urinary glycolate, and a defect of the enzyme-soluble 2-oxo-glutarate:glyoxylate carboligase. However, later work (Danpure et al., 1986; Danpure and Jennings, 1988) indicated that 2-oxo-glutarate:glyoxylate carboligase is probably the same gene product as the mitochondrial matrix enzyme 2-oxoglutarate dehydrogenase (OGDH; see 203750); that the so-called soluble carboligase was probably an artifact caused by mitochondrial damage; and that in any case the latter is not deficient in this disorder. Williams and Smith (1968) found that another group of patients with primary hyperoxaluria excreted normal amounts of glycolic acid but large amounts of l-glyceric acid, more consistent with HP2.
Lindenmayer (1970) reported on 4 cases of oxalosis in 3 sibships. He traced 5 of the 6 parents to a common ancestral couple born in the 1700s. A useful review of published cases was provided.
Coltart and Hudson (1971) reported a girl with oxalosis in whom deposition of oxalate in the cardiac conduction system caused fatal heart block.
Boquist et al. (1973) reported a 46-year-old man with primary oxalosis who had onset of symptoms as an adult characterized by elevated levels of serum and urinary oxalic acid, as well as increased urinary excretion of glycolic and glyoxylic acid. He developed uremia and was treated with dialysis, but the disease progressed, with the appearance of polyneuropathy and peripheral ischemic changes leading to atrophy and gangrene. He died in uremia after 14 months of hemodialysis. Boquist et al. (1973) suggested that hemodialysis should not be utilized in patients with primary oxalosis. There was a family history of the disorder. Postmortem examination showed calcium oxalate deposits in the kidneys, including the glomeruli, interstitium, and tubular epithelial cells and lumens, myocardium, spongy bone, prostate, testes, striated muscles, aorta, inferior vena caval vein, and in numerous arteries and arterioles. The oxalate crystals were believed to be primarily formed intracellularly in the various organs. Additional findings were chronic pyelonephritis, degeneration of peripheral nerve fibers and perineural fibrosis. There was a family history of the disorder. The authors noted the unusually long survival of this patient.
Dennis et al. (1980) found that another complication of the disorder is peripheral vascular insufficiency resulting from spasm or arterial occlusion. Raynaud phenomenon, livedo reticularis, acrocyanosis, spasms of large arteries, gangrene and intermittent claudication have also been reported (Dennis et al., 1980); these are late complications in patients with uremia.
Morris et al. (1982) reported 3 infants with nephrocalcinosis and terminal renal failure due to oxalosis. All 3 had widespread oxalate deposition. Although biochemical evidence of primary hyperoxaluria was sought, the presence of severe renal failure and the lack of established normal values for urinary and plasma oxalate and glycollate in infants made the diagnosis difficult to establish. At least 1 patient appeared to have type I, since plasma glycolate was elevated. Morris et al. (1982) commented that it was unusual for primary oxalosis to display so early an onset and so rapid a course.
Chesney et al. (1983) reported a girl with HP1 who presented with renal failure at age 5 years and underwent bilateral renal transplants. A large radiopaque stone developed in 1 ureter after surgery. She had frequent pathologic fractures through large radiolucent areas that initially were interpreted as osteitis fibrosa cystica, but were found histologically to be areas of massive calcium oxalate deposition with localized histiocytic destruction of bone. The patient also had extensive soft-tissue calcification limiting motion in several joints. Material extruded from some of these deposits represented oxalates. Calcium oxalate crystals were extruded from under the patient's nails.
Danpure et al. (1989) reported 2 unrelated patients with HP1. One was a 16-year-old boy with a history of calcium oxalate kidney stones, hyperoxaluria, and hyperglycolic aciduria who had reached end-stage renal failure and was on dialysis. Residual AGXT activity was 8.7%. The second patient was a 33-year-old man with a milder form of the disorder, a history of calcium oxalate kidney stones, and a favorable response to pyridoxine treatment. Residual AGXT activity was 27.1%.
Small et al. (1990) examined 24 patients with primary hyperoxaluria and found that 8 had a crystalline retinopathy; 3 of the 8 also had optic neuropathy.
Theodossiadis et al. (2002) reported a 22-year-old man with type I primary hyperoxaluria who developed slowly progressive visual loss due to crystalline retinopathy. He then developed rapid, severe visual loss in both eyes. Fluorescein angiography confirmed the presence of choroidal neovascularization in both eyes at the edges of his previous macular scars. The authors concluded that mechanical factors from oxalate deposition may promote choroidal neovascularization.
Danpure and Jennings (1986) demonstrated that total alanine:glyoxylate aminotransferase levels were reduced in 2 patients with primary hyperoxaluria type I. In 1 patient, reduction in enzyme activity was found to be due to complete absence of the peroxisomal form of the enzyme.
Danpure et al. (1987) found that AGT activity, assayed in unfractionated liver tissue, ranged from 11 to 47% of the mean control value and appeared to be related to the clinical severity of the disorder and to several biochemical variables that indicate the degree of pathophysiologic derangement.
Danpure (1988) indicated that deficiency of AGT had been demonstrated in 27 patients with this disorder. The finding is compatible with earlier work showing that a few patients respond to pyridoxine; pyridoxal phosphate is a cofactor for AGT. Both soluble and mitochondrial alpha-ketoglutarate glyoxylate carboligase activity of muscle were normal in a patient with l-glycolic hyperoxaluria reported by Bourke et al. (1972). The patient may have suffered from a different disorder, or the enzyme of muscle may be an isozyme of that in liver, spleen and kidney which was deficient in this patient.
In liver tissue isolated from a patient with a severe form of HP1 with 8.7% residual AGXT activity, Danpure et al. (1989) showed that the AGXT activity was entirely within mitochondria, rather than in peroxisomes. In contrast, control liver AGXT was localized entirely within peroxisomes. The findings indicated that the defect resulted from intracellular rerouting of the AGXT enzyme.
Danpure (1993) published a review of primary hyperoxaluria type 1, including a discussion of mitochondrial targeting sequences and peroxisomal targeting sequences.
Yendt and Cohanim (1985) noted that the diagnosis in some screened patients may be obscured if the subject is ingesting a pyridoxine-rich diet or multivitamin tablets containing even small amounts of pyridoxine.
Danpure et al. (1987) suggested that this disorder can be diagnosed by percutaneous hepatic needle biopsy in assay of AGT, the activity of which may be useful in determining the prognosis and likely severity of the disease.
Prenatal Diagnosis
Danpure et al. (1988) showed that prenatal diagnosis can be made by study of fetal liver tissue obtained by ultrasound-guided needle aspiration. They were able to exclude the diagnosis by the finding of normal AGT activity and normal immunoreactive AGT protein in the liver of a fetus at risk.
Danpure and Rumsby (1996) reviewed the strategies that had been adopted over the previous 13 years for the prenatal diagnosis of this disorder. These included (1) glyoxylate metabolite analysis of amniotic fluid in the second trimester; (2) AGT enzyme assay, immunoassay, and immunoelectron microscopy of fetal liver biopsies, also in the second trimester; and (3) linkage and mutation analysis of DNA isolated from chorionic villus samples in the first trimester. The methods have evolved in parallel with increasing understanding of the molecular etiology and pathogenesis of the disease. Danpure and Rumsby (1996) stated that, although the usefulness of metabolite analysis remained unproven, all the other methods had been successfully applied to the prenatal diagnosis of this disorder.
Oral Medications
Will and Bijvoet (1979) observed favorable clinical and biochemical response to oral B6 treatment in primary hyperoxaluria. Pyridoxine (B6) is a cofactor in the alanine-glyoxylate transaminase enzyme pathway.
In 2 patients with type I primary hyperoxaluria, Yendt and Cohanim (1985) found that pyridoxine in a physiologic dose of 2 mg per day caused a marked fall in urinary oxalate and glycolate excretion and that excretion became completely normal when the dose was increased to 25 mg per day. In 2 other patients, who also differed by having normal urinary glycolate excretion, higher doses of pyridoxine were required: in 1, 200 mg per day produced moderate reduction in oxalate excretion and in the other, 25 mg per day had that effect.
Pyridoxine in high dosage is beneficial (O'Regan and Joekes, 1980), but since sensory neuropathy from high doses of pyridoxine has been observed (Berger and Schaumburg, 1984), use of low dosage is desirable. Orthophosphate prevents the progress of calcium oxalate stones. Small doses of a thiazide diuretic may be useful.
Milliner et al. (1994) reported experience with the treatment of primary hyperoxaluria with orthophosphate and pyridoxine in 25 patients treated for an average of 10 years (range, 0.3 to 26). They concluded that double therapy decreases urinary calcium oxalate crystallization and helps preserve renal function. Pyridoxine may be helpful even when renal failure has set in. If renal transplantation is necessary, these measures may help avoid damage to the transplanted kidney.
RNAi Therapeutics
Garrelfs et al. (2021) reported the results of a double-blind phase 3 clinical trial of the use of subcutaneous lumasiran, an RNA interference (RNAi) therapeutic agent, versus placebo in patients with HP1 who were 6 years of age or older. Among the 26 patients randomly assigned to the lumasiran group, the percentage reduction in 24-hour urinary oxalate excretion was 53.5 percentage points greater than among the 13 patients who received placebo (p less than 0.001), with effects observed as early as month 1. Most patients who received lumasiran had normal or near-normal urinary oxalate levels at month 6. Treatment also substantially reduced plasma oxalate levels. The principal adverse events were mild, transient injection-site reactions, seen in 38% of patients. No serious adverse events or deaths were associated with lumasiran treatment.
Renal and Hepatic Transplantation
Klauwers et al. (1969) had demonstrated that renal transplantation in primary oxalosis is unsuccessful because the donor kidney becomes involved, causing functional failure.
Watts et al. (1985) reported failure of renal transplant because of oxalate deposits. Thereafter, combined liver and renal transplantation was done. The postoperative observations were compatible with correction of the metabolic lesion by the grafted liver; the patient died of complications of immunosuppressive therapy. Watts et al. (1987) reported the successful treatment of a 23-year-old patient with combined hepatic and renal transplantation. The metabolic lesion was corrected by replacement of the deficient hepatic enzyme activity. Two previous renal transplants had failed, including 1 from a live, related donor.
McDonald et al. (1989) described a 38-year-old man in whom kidney transplantation and later liver transplantation were performed with correction of the metabolic defect and resorption of deposits of oxalate in the renal allograft. This patient was described also by Baethge et al. (1988) as an instance of livedo reticularis and peripheral gangrene due to oxalate sludge. The patient also had third-degree heart block, a recognized complication of oxalosis (Massie et al., 1981), which resolved after transplantation.
Latta and Brodehl (1990) reviewed the disorder on the basis of data from 330 published cases. They emphasized that whereas kidney transplantation is associated with a high rate of recurrence, liver transplantation offers the possibility of correcting the metabolic defect and preventing progression of crystal deposits. Attempts at prenatal diagnosis by analysis of organic acids in amniotic fluid have been unsuccessful.
Gruessner (1998) described a 22-month-old child with primary hyperoxaluria type I who received a liver transplant from her father. Eight months after transplantation and despite the use of nephrotoxic tacrolimus-based immunosuppressive therapy, her kidney function was stable, without the need for dialysis or kidney transplantation. The patient had presented at 5 weeks of age with dehydration, uremia, and nephrocalcinosis, as demonstrated by ultrasound. Kidney biopsy at the time of transplantation of the 320-gm liver from the father showed moderate to severe oxalosis. Eight months after transplantation, the urine oxalate concentration was normal.
Walden et al. (1999) reported a 6-year follow-up of a 10-year-old male patient who underwent hepatorenal transplantation at the age of 4 years. The boy showed significant catch-up growth, with height standard deviation score for chronologic age improving from -2.4 before transplantation to -0.3 after 6 years. Radiologic bone density improved at the same time.
Cochat et al. (1999) conducted a questionnaire survey of cases of primary hyperoxaluria type I in specialized centers worldwide. They identified 78 infants, of whom 44% were of Muslim origin and 56% were non-Muslim. The consanguinity rate was 76% and 0%, respectively. Thirty-three percent were treated in developing countries (group 1) and 67% in developed countries (group 2). Initial presentation (4.9 +/- 2.8 months) consisted of failure to thrive (22%), urinary tract infection (21%), and uremia (14%). Radiologic findings included nephrocalcinosis (91%), urolithiasis (44%), or both (22%). The diagnosis was based on family history, tissue biopsy, and urine oxalate levels in most patients from group 1, and on urine oxalate and glycolate levels, alanine:glyoxalate aminotransferase activity, and DNA analysis in patients from group 2. Therapeutic withdrawal was the final option for 40% of the children; financial reasons were given for 10 of 17 patients from group 1 and none of 9 patients from group 2. End-stage renal disease started at 3.2 +/- 6.4 years of age and was present in half of the patients at the time of diagnosis. Fifty-two percent of the patients died: 82% in group 1 versus 33% in group 2; 33% of patients who underwent transplantation died versus 71% of those who did not. Cochat et al. (1999) pointed out that the management of this disorder is a major example of the ethical, epidemiologic, technical, and financial challenges that are raised by autosomal recessive diseases with early life-threatening onset. In certain circumstances, oxalosis can be regarded as a condition for which therapeutic withdrawal may be an acceptable option.
In a patient with primary hyperoxaluria type I, Nishiyama et al. (1991) identified a mutation in the AGXT gene (S205P; 604285.0001). SPT activity was approximately 1% of that in control liver.
Purdue et al. (1990) found that approximately one-third of patients with type I primary hyperoxaluria have an allele carrying 2 point mutations: P11L (604285.0002) and G170R (604285.0013). Purdue et al. (1991) showed that the substitution of P11L variant is necessary and sufficient for the generation of a mitochondrial targeting sequence (MTS) in the AGT protein such that it is incorrectly targeted to the mitochondria instead of to the peroxisome. Although the P11L mutation creates an MTS, the G170R mutation appeared to be necessary for redirection of AGT to the mitochondria, presumably by interfering with the mechanism of targeting to peroxisomes.
In 15 unrelated Italian patients with primary hyperoxaluria type I, Pirulli et al. (1999) identified the mutant AGXT alleles in each individual and found 8 new mutations. The screening strategy made use of the SSCP technique, followed by sequencing of bands with abnormal mobility derived from the AGXT exons. The most frequent mutation was G630A (604285.0013), accounting for 30% of alleles, followed by G588A (604285.0012), with a 13% frequency. Ten of the 15 patients were homozygotes; in only 1 case were the parents identified as first cousins. Pirulli et al. (1999) stated that a total of 7 polymorphisms and 17 mutations had been identified in the AGXT gene, including the 8 new mutations they found.
In a mutation update of the AGXT gene, Williams et al. (2009) stated that 146 mutations had been identified to date, with all exons of the AGXT gene represented. The authors identified 50 novel mutations in patients with HP1. There were no apparent genotype/phenotype correlations.
Fargue et al. (2013) showed that 3 disease-causing missense mutations, I244T (604285.0007), F152I (604285.0006), and G41R (604285.0005), which occur on the background of the minor allele characterized by the P11L polymorphism, can, like G170R, unmask the cryptic P11L-generated mitochondrial targeting sequence and result in AGT protein being mistargeted to mitochondria. These 4 missense mutations together constitute 40% of HP1 alleles.
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