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gard | https://rarediseases.info.nih.gov/diseases/10327/24-dienoyl-coa-reductase-deficiency | PL8XPYQ | 2,4-Dienoyl-CoA reductase deficiency | C1857252 | 0 | 2,4-dienoyl-coa reductase deficiency. 2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance. | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. SummaryClinical description.Primary hyperoxaluria type 3 (PH3) is characterized by recurring calcium oxalate stones beginning in childhood or adolescence and, on occasion, nephrocalcinosis or reduced kidney function. In 50%-65% of individuals with PH3 stone formation begins prior to age five years. Although the frequency and severity of stone activity often seem to abate by adolescence and adulthood, stone formation can occur throughout life and some adults have many stones. To date systemic oxalosis has not been reported in PH3.Diagnosis/testing.The diagnosis of PH3 is established in a proband with calcium oxalate kidney stone(s) and/or nephrocalcinosis, urine oxalate >0.7 mmol/1.73 m2/24 hours (in those with preserved kidney function), increased concentration of plasma oxalate (particularly in those with reduced kidney function), and biallelic (homozygous or compound heterozygous) pathogenic variants in HOGA1. | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. To date systemic oxalosis has not been reported in PH3.Diagnosis/testing.The diagnosis of PH3 is established in a proband with calcium oxalate kidney stone(s) and/or nephrocalcinosis, urine oxalate >0.7 mmol/1.73 m2/24 hours (in those with preserved kidney function), increased concentration of plasma oxalate (particularly in those with reduced kidney function), and biallelic (homozygous or compound heterozygous) pathogenic variants in HOGA1.Management.Treatment of manifestations: Reduction of urine supersaturation of calcium oxalate by maintaining high oral fluid intake at all times and use of an inhibitor of calcium oxalate crystallization such as potassium or sodium citrate; prevention of stone complications by prompt relief of urinary tract obstruction and treatment of urinary tract infections; and avoidance of marked dietary oxalate excess.Prevention of primary manifestations: Same as Treatment of manifestations.Surveillance: For those who are stable, annual clinical assessment of: stone- | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. heterozygous) pathogenic variants in HOGA1.Management.Treatment of manifestations: Reduction of urine supersaturation of calcium oxalate by maintaining high oral fluid intake at all times and use of an inhibitor of calcium oxalate crystallization such as potassium or sodium citrate; prevention of stone complications by prompt relief of urinary tract obstruction and treatment of urinary tract infections; and avoidance of marked dietary oxalate excess.Prevention of primary manifestations: Same as Treatment of manifestations.Surveillance: For those who are stable, annual clinical assessment of: stone-related symptoms (pain), frequency of passage of urinary stones and/or gravel, urinary tract infection; adherence to high fluid intake and medication schedule; annual: assessment of kidney function by serum creatinine, measurement of plasma oxalate concentration in those with impaired renal function, 24-hour urine oxalate and supersaturation study, and renal ultrasound examination or other imaging to monitor for stone formation.Agents/circumstances to avoid: Intravascular volume contraction, delays in treatment of acute | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. stable, annual clinical assessment of: stone-related symptoms (pain), frequency of passage of urinary stones and/or gravel, urinary tract infection; adherence to high fluid intake and medication schedule; annual: assessment of kidney function by serum creatinine, measurement of plasma oxalate concentration in those with impaired renal function, 24-hour urine oxalate and supersaturation study, and renal ultrasound examination or other imaging to monitor for stone formation.Agents/circumstances to avoid: Intravascular volume contraction, delays in treatment of acute stone episodes, marked dietary oxalate excess, high-dose ascorbic acid, and nephrotoxic agents.Evaluation of relatives at risk: Presymptomatic diagnosis and treatment is warranted in relatives at risk to reduce stone formation and the risk of nephrocalcinosis and chronic kidney disease.Pregnancy management: Adequate fluid intake throughout the pregnancy.Genetic counseling.PH3 is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. Intravascular volume contraction, delays in treatment of acute stone episodes, marked dietary oxalate excess, high-dose ascorbic acid, and nephrotoxic agents.Evaluation of relatives at risk: Presymptomatic diagnosis and treatment is warranted in relatives at risk to reduce stone formation and the risk of nephrocalcinosis and chronic kidney disease.Pregnancy management: Adequate fluid intake throughout the pregnancy.Genetic counseling.PH3 is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the HOGA1 pathogenic variants in the family are known.DiagnosisSuggestive FindingsPrimary hyperoxaluria type 3 (PH3) should be considered in any individual with the following:Recurring calcium oxalate stonesOnset of stone | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the HOGA1 pathogenic variants in the family are known.DiagnosisSuggestive FindingsPrimary hyperoxaluria type 3 (PH3) should be considered in any individual with the following:Recurring calcium oxalate stonesOnset of stone disease in childhood or adolescenceNephrocalcinosisReduced kidney function in the presence of calcium stones or nephrocalcinosisFamily history of chronic kidney disease and/or recurring calcium oxalate stones consistent with autosomal recessive inheritanceNote: Since idiopathic stone disease is very common and since calcium oxalate is found in approximately 80% of stones , a high index of clinical suspicion is necessary to identify the small proportion of individuals who form calcium oxalate stones as a result | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. :Recurring calcium oxalate stonesOnset of stone disease in childhood or adolescenceNephrocalcinosisReduced kidney function in the presence of calcium stones or nephrocalcinosisFamily history of chronic kidney disease and/or recurring calcium oxalate stones consistent with autosomal recessive inheritanceNote: Since idiopathic stone disease is very common and since calcium oxalate is found in approximately 80% of stones , a high index of clinical suspicion is necessary to identify the small proportion of individuals who form calcium oxalate stones as a result of PH3.Establishing the DiagnosisAlgorithms for the diagnosis of the primary hyperoxalurias have recently been published (see Figure 1).Figure 1. Algorithm for the diagnostic evaluation of primary hyperoxaluria in an affected individual 1. Chronic kidney disease is defined as a glomerular filtration rate <50 mL/min/1.73 m2, or serum creatinine ≥2x normal for age.The diagnosis of PH3 is established in a | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. individuals who form calcium oxalate stones as a result of PH3.Establishing the DiagnosisAlgorithms for the diagnosis of the primary hyperoxalurias have recently been published (see Figure 1).Figure 1. Algorithm for the diagnostic evaluation of primary hyperoxaluria in an affected individual 1. Chronic kidney disease is defined as a glomerular filtration rate <50 mL/min/1.73 m2, or serum creatinine ≥2x normal for age.The diagnosis of PH3 is established in a proband with the clinical findings of calcium oxalate kidney stone(s) and/or (on occasion) nephrocalcinosis and the following biochemical and molecular genetic findings.Biochemical FindingsUrine oxalate. >0.7 mmol/1.73 m2/24 hours in individuals with preserved kidney function (GFR >40 mL/min/1.7m2)Note: (1) Urine oxalate may be lower in individuals with advanced chronic kidney disease ( | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. The diagnosis of PH3 is established in a proband with the clinical findings of calcium oxalate kidney stone(s) and/or (on occasion) nephrocalcinosis and the following biochemical and molecular genetic findings.Biochemical FindingsUrine oxalate. >0.7 mmol/1.73 m2/24 hours in individuals with preserved kidney function (GFR >40 mL/min/1.7m2)Note: (1) Urine oxalate may be lower in individuals with advanced chronic kidney disease (CKD). (2) In children the oxalate excretion rate must be corrected for 1.73 m2 body surface area (BSA). (3) Urine oxalate should preferably be measured in a 24-hour urine sample; however, when timed urine collections cannot be obtained, a random urine oxalate/creatinine ratio can be used. Since normal ranges for oxalate/creatinine vary during childhood by age, age-related normal values should be consulted for accurate interpretation ( | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. lower in individuals with advanced chronic kidney disease (CKD). (2) In children the oxalate excretion rate must be corrected for 1.73 m2 body surface area (BSA). (3) Urine oxalate should preferably be measured in a 24-hour urine sample; however, when timed urine collections cannot be obtained, a random urine oxalate/creatinine ratio can be used. Since normal ranges for oxalate/creatinine vary during childhood by age, age-related normal values should be consulted for accurate interpretation (see Table 1).Plasma oxalate. >20 µmol/L and/or systemic oxalosis in individuals with chronic kidney disease stages 3b, 4, and 5 (GFR <45 mL/min/1.73m2)Urine glycolate, L-glycerate, 4-hydroxyoxoglutarate (HOG), and dihydroxyglutarate (DHG)Increased urine glycolate in the presence of hyperoxaluria is suggestive, but | [
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