{"id":111738,"date":"2025-06-13T10:16:36","date_gmt":"2025-06-13T01:16:36","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/"},"modified":"2025-10-16T14:51:26","modified_gmt":"2025-10-16T05:51:26","slug":"primary-hyperoxaluria-type1-ph1-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en","title":{"rendered":"Primary Hyperoxaluria Type 1 (PH1)"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Genetic_and_Molecular_Basis\" >Genetic and Molecular Basis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#The_AGXT_Gene_and_Its_Function\" >The AGXT Gene and Its Function<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Disease_Overview\" >Disease Overview<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Pathophysiology\" >Pathophysiology<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Epidemiology\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Etiology\" >Etiology<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Inheritance_and_Mutations\" >Inheritance and Mutations<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Common_Mutations_and_Their_Impact\" >Common Mutations and Their Impact<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Symptoms\" >Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#In_Infants_Under_12_Months\" >In Infants (Under 12 Months)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#In_Children_and_Adolescents\" >In Children and Adolescents<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#In_Adults\" >In Adults<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Testing_and_Diagnosis\" >Testing and Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#When_to_Suspect_PH1\" >When to Suspect PH1<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Diagnostic_Tests\" >Diagnostic Tests<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Treatment_and_Management\" >Treatment and Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Vitamin_B6_Pyridoxine_Therapy\" >Vitamin B6 (Pyridoxine) Therapy<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#RNA_Interference_RNAi_Therapy\" >RNA Interference (RNAi) Therapy<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Transplant_Options\" >Transplant Options<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Supportive_Care\" >Supportive Care<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Dialysis\" >Dialysis<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Prognosis\" >Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#References\" >References<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=en\/#Keywords\" >Keywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genetic_and_Molecular_Basis\"><\/span><strong>Genetic and Molecular Basis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>AGXT<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/AGXT-hgtIdeo_genome_fec2d_a80d90-1024x25.png\" alt=\"\" class=\"wp-image-101186\" style=\"width:840px;height:auto\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"The_AGXT_Gene_and_Its_Function\"><\/span><strong>The AGXT Gene and Its Function<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The <strong>AGXT<\/strong> gene, located on <strong>chromosome 2q37.3<\/strong> (HGNC ID: HGNC:341), encodes the enzyme <strong>alanine\u2013glyoxylate aminotransferase (AGT)<\/strong>. This enzyme is found in liver cell organelles called <strong>peroxisomes<\/strong>, where it converts <strong>glyoxylate<\/strong> into <strong>glycine<\/strong>, a harmless amino acid.<\/p>\n\n\n\n<p>When mutations occur in AGXT, this conversion is disrupted. Instead of being neutralized, glyoxylate is converted into oxalate, which accumulates and triggers the symptoms of PH1.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Disease_Overview\"><\/span><strong>Disease Overview<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Pathophysiology\"><\/span><strong>Pathophysiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Under normal conditions, glyoxylate is processed into glycine by the AGT enzyme. In PH1, a weak or absent AGT enzyme leads to excessive oxalate production.<\/p>\n\n\n\n<p>Since oxalate cannot be metabolized, it must be excreted by the kidneys. Excessive oxalate binds to calcium, forming <strong>calcium oxalate crystals<\/strong>, which leads to kidney stones, nephrocalcinosis (calcium deposits in kidney tissue), and, in severe cases, <strong>systemic oxalosis<\/strong>, where oxalate accumulates in multiple organs.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Epidemiology\"><\/span><strong>Epidemiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>PH1 is extremely rare, affecting approximately <strong>1 in 100,000 to 1 in 1.5 million<\/strong> people, depending on the region.<\/p>\n\n\n\n<p>It accounts for about <strong>80% of all hyperoxaluria cases<\/strong> and is more prevalent in <strong>North Africa, the Middle East, and the Canary Islands<\/strong>, regions where genetic consanguinity is more common.<\/p>\n\n\n\n<p>In some areas, PH1 represents around <strong>10% of pediatric end-stage kidney disease (ESKD)<\/strong> cases. Because symptoms can mimic more common conditions, PH1 is frequently misdiagnosed, especially when it appears later in life.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Etiology\"><\/span><strong>Etiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Inheritance_and_Mutations\"><\/span><strong>Inheritance and Mutations<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>PH1 is inherited in an <strong>autosomal recessive pattern<\/strong>, meaning both copies of the <strong>AGXT<\/strong> gene must carry pathogenic variants for the disease to manifest.<\/p>\n\n\n\n<p>Over <strong>200 different pathogenic mutations<\/strong> have been identified, including:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Missense mutations<\/strong>: errors in amino acid coding<br><\/li>\n\n\n\n<li><strong>Nonsense mutations<\/strong>: premature termination of protein production<br><\/li>\n\n\n\n<li><strong>Splice-site mutations<\/strong>: errors in how gene segments are joined<br><\/li>\n\n\n\n<li><strong>Frameshift mutations<\/strong>: disruption of the genetic reading frame<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Common_Mutations_and_Their_Impact\"><\/span><strong>Common Mutations and Their Impact<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Some well-documented mutations include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>p.Gly170Arg (p.G170R)<\/strong>: usually milder; often responsive to vitamin B6 (pyridoxine) therapy<br><\/li>\n\n\n\n<li><strong>p.Phe152Ile (p.F152I)<\/strong>: sometimes B6-responsive<br><\/li>\n\n\n\n<li><strong>p.Ile244Thr (p.I244T)<\/strong>: frequently observed in Morocco and the Canary Islands<br><\/li>\n<\/ul>\n\n\n\n<p>These mutations may result in incorrect enzyme folding, failure to localize to the peroxisomes, enzyme instability, or total loss of enzyme activity.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Symptoms\"><\/span><strong>Symptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"In_Infants_Under_12_Months\"><\/span><strong>In Infants (Under 12 Months)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Growth failure and lethargy<br><\/li>\n\n\n\n<li>Nephrocalcinosis detectable on imaging<br><\/li>\n\n\n\n<li>Rapid progression to end-stage kidney disease<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"In_Children_and_Adolescents\"><\/span><strong>In Children and Adolescents<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Recurrent kidney stones<br><\/li>\n\n\n\n<li>Hematuria (blood in urine)<br><\/li>\n\n\n\n<li>Urinary tract infections<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"In_Adults\"><\/span><strong>In Adults<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Recurrent kidney stones that may go undiagnosed for years<br><\/li>\n\n\n\n<li>Progressive chronic kidney disease<br><\/li>\n\n\n\n<li>Symptoms of systemic oxalosis, such as:<br>\n<ul class=\"wp-block-list\">\n<li><strong>Bone<\/strong>: fractures, growth delays, skeletal fragility<br><\/li>\n\n\n\n<li><strong>Eyes<\/strong>: retinal fibrosis and vision loss<br><\/li>\n\n\n\n<li><strong>Heart<\/strong>: cardiomyopathy, arrhythmias<br><\/li>\n\n\n\n<li><strong>Vascular and nerve issues<\/strong>: gangrene, numbness, poor circulation<br><\/li>\n\n\n\n<li><strong>Bone marrow<\/strong>: anemia and weakened immunity<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Testing_and_Diagnosis\"><\/span><strong>Testing and Diagnosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"When_to_Suspect_PH1\"><\/span><strong>When to Suspect PH1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Children or young adults with recurrent calcium kidney stones<br><\/li>\n\n\n\n<li>Nephrocalcinosis on ultrasound<br><\/li>\n\n\n\n<li>Chronic kidney disease of unknown origin<br><\/li>\n\n\n\n<li>Family history of kidney stones or metabolic disorders<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Diagnostic_Tests\"><\/span><strong>Diagnostic Tests<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>24-hour urine oxalate<\/strong>: >0.5 mmol\/1.73 m\u00b2\/day suggests PH1 in patients producing urine<br><\/li>\n\n\n\n<li><strong>Plasma oxalate<\/strong>: >50 \u00b5mol\/L is strongly indicative in advanced kidney damage<br><\/li>\n\n\n\n<li><strong>Urinary glycolic acid<\/strong>: sometimes helpful, though not definitive<br><\/li>\n\n\n\n<li><strong>Stone composition analysis<\/strong>: typically calcium oxalate monohydrate<br><\/li>\n\n\n\n<li><strong>Genetic testing<\/strong>:<br>\n<ul class=\"wp-block-list\">\n<li>Confirms diagnosis when both AGXT gene copies carry mutations<br><\/li>\n\n\n\n<li>Multi-gene panels help distinguish PH1 from PH2 and PH3<br><\/li>\n\n\n\n<li>Detection rates exceed 97%<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Treatment_and_Management\"><\/span><strong>Treatment and Management<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Vitamin_B6_Pyridoxine_Therapy\"><\/span><strong>Vitamin B6 (Pyridoxine) Therapy<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dose: <strong>5\u201310 mg\/kg\/day<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li>Particularly effective in p.G170R and p.F152I mutations<br><\/li>\n\n\n\n<li>A reduction of urinary oxalate by more than 30% indicates a good response<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"RNA_Interference_RNAi_Therapy\"><\/span><strong>RNA Interference (RNAi) Therapy<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Lumasiran<\/strong>: suppresses glycolate oxidase (GO)<br>\n<ul class=\"wp-block-list\">\n<li>Suitable for all ages<br><\/li>\n\n\n\n<li>Reduces oxalate levels by ~65%<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Nedosiran<\/strong>: targets lactate dehydrogenase A (LDHA)<br>\n<ul class=\"wp-block-list\">\n<li>Approved for patients 9 years and older with functioning kidneys<br><\/li>\n\n\n\n<li>Currently under study for other hyperoxaluria types<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Transplant_Options\"><\/span><strong>Transplant Options<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Liver transplant<\/strong>: corrects the enzyme defect at the source<br><\/li>\n\n\n\n<li><strong>Combined liver-kidney transplant (CLKT)<\/strong>: preferred for end-stage kidney disease<br><\/li>\n\n\n\n<li><strong>Kidney transplant alone<\/strong>: reserved for patients with proven response to vitamin B6<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Supportive_Care\"><\/span><strong>Supportive Care<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Maintain high fluid intake: <strong>2\u20133 L\/1.73 m\u00b2 per day<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li><strong>Citrate therapy<\/strong>: prevents calcium oxalate crystal formation<br><\/li>\n\n\n\n<li>Dietary adjustments: limit high-oxalate foods and avoid excessive vitamin C<br><\/li>\n\n\n\n<li>Avoid nephrotoxic medications such as NSAIDs and loop diuretics<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Dialysis\"><\/span><strong>Dialysis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Initiated if plasma oxalate exceeds <strong>30\u201345 \u00b5mol\/L<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li>May require four or more sessions per week<br><\/li>\n\n\n\n<li>Serves as a bridge to transplantation rather than a long-term solution<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prognosis\"><\/span><strong>Prognosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Infant-onset PH1 typically progresses rapidly, and delayed treatment often leads to severe outcomes.<\/p>\n\n\n\n<p>Patients who respond to vitamin B6 often experience slower kidney deterioration. RNAi therapies are increasingly reducing the need for transplants in some cases.<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> detection and appropriate therapy greatly improve quality of life and help maintain kidney function for longer.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"References\"><\/span><strong>References<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Milliner DS, Harris PC, Sas DJ, et al. Primary Hyperoxaluria Type 1. GeneReviews\u00ae, University of Washington, Seattle; 1993\u20132025.<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1283\/\"> https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1283\/<\/a><\/p>\n\n\n\n<p>Fargue S, Acquaviva Bourdain C. Primary Hyperoxaluria Type 1: Pathophysiology and Genetics. Clinical Kidney Journal. 2022;15(Suppl 1):i4\u20138.<a href=\"https:\/\/doi.org\/10.1093\/ckj\/sfab217\"> https:\/\/doi.org\/10.1093\/ckj\/sfab217<\/a><\/p>\n\n\n\n<p>Wannous H. Primary hyperoxaluria type 1 in children: clinical and laboratory manifestations and outcome. Pediatr Nephrol. 2023;38:2643\u20132648.<a href=\"https:\/\/doi.org\/10.1007\/s00467-023-05917-x\"> https:\/\/doi.org\/10.1007\/s00467-023-05917-x<\/a><\/p>\n\n\n\n<p>Hoppe B, Martin-Higueras C. Improving Treatment Options for Primary Hyperoxaluria. Drugs. 2022;82:1077\u20131094.<a href=\"https:\/\/doi.org\/10.1007\/s40265-022-01735-x\"> https:\/\/doi.org\/10.1007\/s40265-022-01735-x<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Keywords\"><\/span><strong>Keywords<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Primary Hyperoxaluria, PH1, AGXT, Alanine\u2013glyoxylate aminotransferase, Oxalate, Glyoxylate metabolism, Urinary tract stones, Nephrocalcinosis, Systemic oxalosis, Calcium oxalate, Vitamin B6, Pyridoxine, RNA interference, Lumasiran, Nedosiran, Liver transplant, Kidney transplant, End-stage kidney disease, Autosomal recessive inheritance, Metabolic disorder, Genetic diagnosis<\/p>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"Article\",\n  \"mainEntityOfPage\": {\n    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