BACKGROUND: Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1–3 (PH1–PH3) caused by AGXT, GRHPR , and HOGA1 gene mutations, respectively. We performed a retrospective case series study of Korean pediatric patients with PH.METHODS: In total, 11 unrelated pediatric patients were recruited and their phenotypes and genotypes were analyzed by a retrospective review of their medical records.RESULTS: Mutational analyses revealed biallelic AGXT mutations (PH1) in nine patients and a single heterozygous GRHPR and HOGA1 mutation in one patient each. The c.33dupC was the most common AGXT mutation with an allelic frequency of 44%. The median age of onset was 3 months (range, 2 months-3 years), and eight patients with PH1 presented with end stage renal disease (ESRD). Patients with two truncating mutations showed an earlier age of onset and more frequent retinal involvement than patients with one truncating mutation. Among eight PH1 patients presenting with ESRD, five patients were treated with intensive dialysis followed by liver transplantation (n=5) with/without subsequent kidney transplantation (n=3).CONCLUSION: Most patients presented with severe infantile forms of PH. Patients with two truncating mutations displayed more severe phenotypes than those of patients with one truncating mutation. Sequential liver and kidney transplantation was adopted for PH1 patients presenting with ESRD. A larger nation-wide multicenter study is needed to confirm the genotype-phenotype correlations and outcomes of organ transplantation.
Age of Onset ; Dialysis ; Genetic Association Studies ; Genotype ; Humans ; Hydrogen-Ion Concentration ; Hyperoxaluria, Primary ; Kidney Failure, Chronic ; Kidney Transplantation ; Liver ; Liver Transplantation ; Medical Records ; Organ Transplantation ; Phenotype ; Retinaldehyde ; Retrospective Studies ; Transplants

The infant (a girl aged 6 months) was admitted to the hospital because of oliguria and acute renal dysfunction. The laboratory examination results showed serious metabolic acidosis and increased blood urea nitrogen and serum creatinine levels. The patient continued to be anuric after 10 days of treatment with continuous renal replacement therapy (CRRT). she died a day later. The family history showed that the patient's sister died of acute renal failure 6 months after birth. The genomic sequencing results showed AGXT mutation in the patient and confirmed the diagnosis of primary hyperoxaluria type 1 (PH1). Her parents were heterozygous carriers. PH1 should be considered when the children have abnormal renal function or recurrent renal calculi or have a family history of these symptoms. AGXT gene analysis is an important method for PH1 diagnosis.
Acute Kidney Injury ; etiology ; Female ; Humans ; Hyperoxaluria, Primary ; complications ; Infant ; Mutation ; Oliguria ; etiology ; Transaminases ; genetics

No abstract available.
Humans ; Hyperoxaluria, Primary* ; Infant* ; Male*

No abstract available.
Bone Marrow/*metabolism/pathology ; Calcium Oxalate/chemistry/metabolism ; Humans ; Hyperoxaluria/*etiology ; Kidney Calculi/etiology ; Male ; Middle Aged ; Nephrectomy/*adverse effects ; Pancytopenia/*pathology ; Recurrence ; Renal Insufficiency/etiology ; Thyrotropin/blood

PURPOSE: Nephrocalcinosis (NC) is frequently observed in premature infants. Small-scale studies have suggested that NC adversely affects renal function; however, the etiologic factors are still unclear. This prospective observational study aimed to identify the factors that influence the development of NC, through urine analysis. METHODS: In total, 99 preterm infants (gestational age <34 weeks) diagnosed with NC in the neonatal intensive care unit (NICU) from October 2010 to March 2014 were evaluated. Data regarding perinatal characteristics, respiratory support, total parenteral nutrition (TPN), and use of nephrotoxic drugs were analyzed. After an ultrasonographic diagnosis of NC, the infants were subjected to biweekly urine tests along with ultrasonographic follow-ups until the resolution of NC, in the outpatient department. RESULTS: NC was diagnosed in 23% (99/432) of the preterm infants admitted to the NICU. Their median gestational age and birth weight were 28?³ (range:23??-35?²) weeks and 1,120 (range: 560-1,950) g, respectively. NC was diagnosed an average of 26.4±2.8 (range: 2-82) days after birth, and the corrected gestational age at that time was 32.4±2.0 weeks. Preterm infants with NC had hyperoxaluria (oxalate/Cr=4.1 [oxalate/Cr<0.3]), and low urinary citrate levels (citrate/Cr=0.03 [citrate/Cr>0.51]). The follow-up rate was 52% (27/52) and symptoms in none of the infants had progressed to nephrolithiasis. In the infants that were followed up, NC was resolved at a mean age of 7.7 (range: 2-32) months. CONCLUSION: Our results suggest that hyperoxaluria is a significant risk factor for the development of NC.
Birth Weight ; Citric Acid ; Diagnosis ; Follow-Up Studies ; Gestational Age ; Humans ; Hyperoxaluria ; Infant ; Infant, Newborn* ; Infant, Premature ; Intensive Care, Neonatal ; Korea* ; Nephrocalcinosis* ; Nephrolithiasis ; Observational Study ; Outpatients ; Parenteral Nutrition, Total ; Parturition ; Prognosis* ; Prospective Studies ; Risk Factors

A 49-year-old woman visited the clinic because of acute hepatitis and acute kidney injury with decreased urine output presenting microscopic hematuria and proteinuria. An abdominal computed tomography revealed a localized, hypoattenuated lesion in a hepatic lateral segment, and kidney biopsy showed oxalate crystal deposition with tubular necrosis. In addition, the patient's 24-hour urinary excretion of oxalate was increased. Her kidney and liver injury improved after sessions of hemodialysis, and urinary oxalate excretion was normalized. Major mutations in primary hyperoxaluria have not been proven. A full sequencing of target genes may be helpful to diagnose a rare form of primary hyperoxaluria.
Acute Kidney Injury ; Biopsy ; Female ; Hematuria ; Hepatitis ; Humans ; Hyperoxaluria* ; Hyperoxaluria, Primary ; Kidney* ; Liver* ; Middle Aged ; Necrosis ; Proteinuria ; Renal Dialysis

The incidence of kidney stones is common in the United States and treatments for them are very costly. This review article provides information about epidemiology, mechanism, diagnosis, and pathophysiology of kidney stone formation, and methods for the evaluation of stone risks for new and follow-up patients. Adequate evaluation and management can prevent recurrence of stones. Kidney stone prevention should be individualized in both its medical and dietary management, keeping in mind the specific risks involved for each type of stones. Recognition of these risk factors and development of long-term management strategies for dealing with them are the most effective ways to prevent recurrence of kidney stones.
Calcium Oxalate ; Diagnosis ; Epidemiology ; Humans ; Hypercalciuria ; Hyperoxaluria ; Incidence ; Kidney Calculi* ; Kidney* ; Nephrolithiasis ; Recurrence ; Risk Factors ; United States

Adolescent ; Diagnosis, Differential ; Humans ; Hyperoxaluria, Primary ; diagnosis ; Knee ; diagnostic imaging ; Lumbar Vertebrae ; diagnostic imaging ; Male ; Patella ; diagnostic imaging ; injuries ; Radiography

OBJECTIVETo observe the therapeutic effect of inulin on enteric hyperoxaluria in rats.

METHODSIn experimental A, 24 healthy male Sprague-Dawley rats received an oxalate-free diet on day 1, a high-oxalate diet (oxalate, 74.82 mg/100 g feed stuffs) on days 2 and 3, and plus 2 g inulin to each rat on day 3. The 24-hour urinary volume, concentrations of urinary oxalate and urine creatinine were measured, and 24-hour urinary oxalate excretion was calculated. In experimental B, 24 healthy male Sprague-Dawley rats were equally randomized into control group and inulin group, Each rat received a high oxalate diet (oxalate, 74.82 mg/100 g feedstuffs), and plus 2 g inulin in inulin group. The 24-hour urinary oxalate excretion was calculated in both two groups.

RESULTSIn experimental A, the 24-hour urinary oxalate excretion varied with time (F=11.481, P=0.035). The 24-hour urinary oxalate excretion significantly increased on day 2 compared with that on day 1 (P=0.026) and day 3 (P=0.037); it significantly increased on day 3 compared with day 1 (P=0.004). In experimental B, the 24-hour urinary oxalate excretion significantly decreased in inulin group compared with the control (P=0.011).

CONCLUSIONInulin may have potential therapeutic effect on enteric hyperoxaluria in rats.

Animals ; Disease Models, Animal ; Hyperoxaluria ; drug therapy ; Inulin ; therapeutic use ; Male ; Rats ; Rats, Sprague-Dawley ; Treatment Outcome

INTRODUCTION: Cystone is an approved Ayurvedic polyherbal proprietary medicine used in India for various urinary disorders, including urolithiasis. AIM: To evaluate the protective effect of Cystone against hyperoxaluria-induced oxidative stress and calcium oxalate crystal deposition in urolithiasis. METHODS: Ethylene glycol (EG) (0.75%, V/V) in drinking water was given to rats for 28 days to induce urolithiasis with simultaneous treatment of Cystone (500 and 750 mg/kg body weight), and various urinary risk factors of urolithiasis and antioxidant markers were assessed. RESULTS: EG treatment lead to increased urine volume and lowered urinary pH, along with increased urinary excretion of oxalate, calcium and phosphate in untreated animals. These changes caused extensive calcium oxalate crystal deposition, increased lipid peroxidation and decreased activity of antioxidant enzymes (SOD, catalase and GPx) in the kidney of untreated rats. Cystone prevented these hyperoxaluric manifestations and inhibited calcium oxalate crystal deposition in treated rats at both doses. CONCLUSIONS Cystone therapy provides protection against hyperoxaluria-induced oxidative stress and calcium oxalate crystal deposition by improving renal tissue antioxidant status and diuresis.
Animals ; Calcium Oxalate ; chemistry ; metabolism ; Chemistry, Pharmaceutical ; Humans ; Hyperoxaluria ; drug therapy ; metabolism ; India ; Kidney ; drug effects ; metabolism ; Lipid Peroxidation ; drug effects ; Male ; Oxidative Stress ; drug effects ; Plant Extracts ; administration & dosage ; Plants, Medicinal ; chemistry ; Rats ; Rats, Wistar ; Urolithiasis ; drug therapy ; metabolism