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Inherited metabolic liver disease (IMLD) is a category of liver metabolic diseases caused by genetic disorders. The pathogenesis of IMLD is complex, which primarily comprises the accumulation of harmful metabolic substrates or products caused by specific enzyme defects and energy defects or abnormal deposition caused by abnormal metabolism of glucose, fat and other substances. In recent years, liver transplantation has played an increasingly critical role in the treatment of IMLD with the development of liver transplantation. At present, IMLD has become the second most important indication after biliary atresia in pediatric liver transplantation. Currently, IMLD patients receiving liver transplantation can be divided into two categories: the first category is IMLD complicated with liver disease; Category 2 patients have a normal liver structure but are deficient in related metabolic enzymes. It can not only replace the liver with abnormal structure and function, but also provide normal enzymes required for patients' metabolism, which may improve their quality of life and even save their lives. In this article, common feasible liver transplantation for IMLD, clinical prognosis and surgical procedures of liver transplantation for IMLD were reviewed, aiming to provide reference for liver transplantation for IMLD.
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Primary hyperoxaluria type Ⅱ (PH2) is an inherited disorder of the glyoxylate metabolism caused by the gene mutation of glyoxylate reductase/hydroxypyruvate reductase (GRHPR). PH2 is characterized by recurrent nephrolithiasis and nephrocalcinosis, which may even progress into end-stage renal disease. Currently, organ transplantation is the only treatment option for PH2, which mainly includes two strategies: kidney transplantation and combined liver and kidney transplantation. Kidney transplantation yields a high risk of recurrence of oxalate nephropathy, which may cause early graft dysfunction. Combined liver and kidney transplantation could mitigate the deficiency of oxalate metabolism, whereas it yields a high risk of graft complications. PH2 is an extremely rare disorder. No consensus has been reached on the indications, surgical selection and perioperative management of organ transplantation for PH2 patients. In this article, the pathogenesis, diagnosis, monitoring and organ transplantation experience of PH2 were reviewed, aiming to divert clinicians' attention to PH2 and provide reference for determining diagnosis and treatment regimens, especially transplantation strategy for PH2 patients.
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Primary hyperoxaluria (PH) is a rare autosomal recessive hereditary disease, characterized by calcium oxalate kidney stone and nephrocalcinosis caused by defects in enzymes of liver glyoxylate metabolism. Up to now, treatment options for PH are limited. Although medication treatment and liver transplantation can slow down the progression and mitigate the symptoms, the evidence for them turned out to be weak. In recent years, breakthroughs in biotechnology provide novel promising directions for drug development. Small interfering RNA drugs, such as lumasiran and nedosiran, selectively reduce hepatic expression of glycolate oxidase and lactate dehydrogenase respectively, reducing hepatic oxalate production and urinary oxalate levels in PH patients. Gene-editing, such as CRISPR/Cas9, will be a potential treatment method of PH. This review encompasses recent developments in the gene therapy of PH.
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Objective To investigate the clinical manifestations, treatment and prognosis of primary hyperoxaluria type 1 (PH1). Methods Relevant literature review was conducted from Chongqing VIP, CNKI, Wanfang Data, PubMed, Web of Science, Embase and Cochrane databases. Clinical data of 57 patients with PH1 were collected, and the clinical manifestations, diagnosis and treatment and prognosis were analyzed. Results A total of 35 eligible studies were searched, including 57 patients with PH1, 39 male and 18 female, aged 0.2-57.0 years old, and the age of onset was from date of birth to 42 years old. The specificity of clinical symptoms of 57 patients with PH1 was relatively low, including 41 cases of renal stones, 21 cases of renal calcification and/or calcium deposition, 12 cases of oxalic acid deposition outside the urinary system, 12 cases of lumbago, backache and abdominal pain, and 8 cases of ureteral stones. Besides, alternative symptoms, such as decreased urine output, metabolic acidosis, disorder of water and electrolyte, anemia and gross hematuria were also reported. Thirty-three patients were diagnosed with end-stage renal disease (ESRD) upon admission. Twenty-six patients received transplantation. Among them, 17 cases underwent kidney transplantation (2 cases repeatedly received combined liver-kidney transplantation due to recurrence of stones and resumption of dialysis, and 1 case repeatedly received liver transplantation due to resumption of dialysis), 7 cases received combined liver-kidney transplantation, 2 cases underwent liver transplantation, and 3 cases received sequential liver-kidney transplantation, respectively. Thirty-one patients did not undergo transplantation. Significant differences were observed in the survival rate between patients treated with and without transplantation (85% vs. 58%, P < 0.05). Conclusions Clinical manifestations of PH1 are diverse and lack of specificity. A majority of PH1 patients are diagnosed with ESRD upon admission. Clinical prognosis of patients undergoing transplantation is better than that of those counterparts without transplantation. Prior liver transplantation or combined liver-kidney transplantation is recommended.
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Introdução: Os cálculos renais compreendem uma das mais comuns patologias do trato urinário e têm apresentado maior incidência em adolescentes nos últimos anos. Objetivos: Identificar os distúrbios metabólicos causadores de cálculo renal mais prevalentes em adolescentes. Métodos: Foram analisados os prontuários de 135 indivíduos portadores de nefrolitíase, com idade entre 12 e 18 anos, de ambos os sexos. Na análise laboratorial, incluiu-se: duas amostras de urina de 24 horas, contendo cálcio, citrato, oxalato e ácido úrico; uma amostra sanguínea, contendo creatinina, paratormônio, ácido úrico e cálcio; pH urinário após 12 horas de restrição hídrica e jejum; urocultura e cistinúria qualitativa. Resultados: 88 pacientes apresentaram hipercaIciúria (65,2%), 42 apresentaram hipocitratúria (31,1%) e 29 hiperuricosúria (21,5%). As demais alterações observadas foram: volume urinário reduzido (14,8%), infecções do trato urinário (9,6%), hiperoxalúria (5,2%), hiperparatireoidismo (1,5%) e acidose tubular renal (1,5%). Os distúrbios metabólicos mais frequentemente observados nos adolescentes portadores de cálculo renal foram hipercalciúria, hipocitratúria e hiperuricosúria
Introduction: Kidney stones are one of the most common pathologies of the urinary tract and have had a higher incidence in adolescents in recent years. Objectives: To identify the most prevalent metabolic disorders that cause kidney stones in adolescents. Methods: The medical records of 135 individuals with nephrolithiasis, aged between 12 and 18 years, of both sexes, were analyzed. The laboratory analysis included: two 24-hour urine samples containing calcium, citrate, oxalate and uric acid; a blood sample, containing creatinine, parathyroid hormone, uric acid, and calcium; urinary pH after 12 hours of fluid restriction and fasting; uroculture and qualitative cystinuria. Results: 88 patients had hyperuricosuria (65.2%), 42 had hypocitraturia (31.1%) and 29 had hyperuricosuria (21.5%). The other changes observed were: reduced urinary volume (14.8%), urinary tract infections (9.6%), hyperoxaluria (5.2%), hyperparathyroidism (1.5%) and renal tubular acidosis (1.5 %). Conclusions: The metabolic disorders most frequently observed in adolescents with kidney stones were hypercalciuria, hypocitraturia and hyperuricosuria.
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Humanos , Adolescente , Trastornos del Metabolismo del Calcio , Cálculos Renales , Nefrolitiasis , HipercalciuriaRESUMEN
Objective To investigate the clinical characteristics and the experience of multi-disciplinary team (MDT) on recurrence of primary hyperoxaluria (PH) type I after renal transplantation. Methods One case presenting with unexplained rapid decline of renal allograft function after allogeneic renal transplantation was discussed by MDT. The role of MDT in diagnosing rare hereditary diseases and improving the long-term survival of renal transplant recipients was summarized. Results After MDT consultation, the patient was diagnosed with recurrence of PH type I. Routine immunosuppressive regimen was initiated after the exclusion of rejection. The patient was instructed to drink a large quantity of water, and given with high-quality protein and low-phosphorus diet, vitamin B6, calcium and other conservative therapies to actively prevent and treat postoperative complications. The deterioration of renal graft function was delayed. Nevertheless, regular hemodialysis was resumed at 5 months after renal transplantation until the submission date of this manuscript. Conclusions Recurrence of PH type I after renal transplantation is relatively rare. The main clinical manifestations are recurrent kidney stones and decreased renal function with multiple complications and poor prognosis. The condition of the patient is consulted by MDT for confirming the diagnosis, determining the optimal treatment scheme, delaying the progression and improving the clinical prognosis.
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Objective@#To investigate the clinical, imaging and molecular characteristics of primary hyperoxaluria type 1 (PH1) in children and to sum up existing evidence for further understanding the phenotype-genotype correlation of infantile PH1.@*Methods@#This retrospective analysis was based on the medical records of children with PH1 diagnosed by gene test in the Department of Nephrology, Guangzhou Women and Children′s Medical Center from June 2016 to May 2019. Targeted exome sequencing was performed on tubular disease-related genes of the probands and Sanger sequencing was conducted to validate suspected pathogenic variants of family members. Logistic regression analysis of NC and CCr was adopted to show the relation between NC and renal function. The literature review was conducted, and the clinical, imaging and molecular biogenetic characteristics of the disease were analyzed and summarized.@*Results@#A total of 7 children from 6 families were enrolled. The median age of onset was 5 months. The median age of diagnosis was 8 months. Five cases had progressed to end-stage renal disease (ESRD), one case had chronic kidney disease (CKD) stage 1, and the other one had CKD stage 2. Four cases died, one case maintained on hemodialysis, and the other two non-dialysis cases were followed up. Among the 7 cases, 4 patients had infantile PH1, 1 patient had child and adolescent type, 1 patient had family type and the other one had unknown classification. There were two siblings (the younger brother had uremia and the sister had normal renal function) who had the delayed diagnosis for 5 and 3 years respectively. All patients in this cohort had proteinuria and microscopic hematuria, but no patients had gross hematuria. Three cases had hypercalciuria. Comprehensive diagnostic imaging evaluation include CT scan, MR scan, radiography and ultrasound led to the diagnosis of nephrocalcinosis (NC) in 5 cases, including 4 cases of simple NL and 1 case of NC with nephrolithiasis (NL), 1 case of multiple NL and 1 case of microcrystal deposition in renal medulla. However, only one case of NC was identified by ultrasound, the other 4 cases of NC were identified by radiograph examination. In the logistic regression analysis involving NC and creatinine clearnce rate (CCr), the results showed that NC was an independent risk factor for renal dysfunction (OR 2.5, 95%CI 0.7-1.2, P<0.05). All the 7 cases had AGXT gene variant, including homozygous variant in 4 cases and compound heterozygous variant in 3 cases. A total of 9 variant genotypes were found, and exon 6 variants were found in 4 children. Among them, there were 3 cases with c.679_680delAA. To our knowledge, both c.679_680delAA and c.190A>T in the cohort have not been reported previously.@*Conclusions@#Infantile PH1 is the most common type of PH1 in children, which progresses rapidly or even begins with renal failure, with poor prognosis. It is also highly heterogeneous in phenotype and genotype. NC is an independent risk factor leading to renal failure. Radiograph examination showed high specificity for the diagnosis of NC. At present, the misdiagnosis and delayed diagnosis of PH1 are still common in China. It is of great significance to carry out quantitative determination of uric oxalate in order to reduce the misdiagnosis rate and enhance follow-up technologies for evaluating the therapeutic effect.
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Mitochondrial redox/oxidative balance are vital for cellular life and death. Mitochondria are considered as the most important sub cellular site of reactive oxygen species production in mammalian organs. Reactive oxygen species produced by mitochondria can cause damage to mitochondrial components and initiate degradative processes. The kidney requires ample amount of mitochondria to remove waste from the blood and regulate fluid and electrolyte balance. Adverse conditions of organelle stress such as decreased altered energy metabolism in mitochondria contribute in the progression and development of kidney diseases. Nephrolithiasis is a kidney disease in which solid urinary components form crystals, precipitated out of the urine and shaped into stones. Studies have suggested that oxidative stress and associated renal injury paved the way for crystal deposition in the renal tissue. Mitochondria are anticipated as the foremost source of intracellular reactive oxygen species under oxalate induced nephrolithiasis. Persistent mitochondrial dysfunction results in the progression of nephrolithiasis. Although different approaches to minimize mitochondrial dysfunction through regulation of mitochondrial ROS production using antioxidants have been accomplished yet mitochondria specific antioxidants are the prerequisite. This review offers a glimpse into the role of mitochondrial reactive oxygen species in nephrolithiasis and the future perspective of potential antioxidant therapies.
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La hiperoxaluria primaria tipo 2 es una enfermedad rara caracterizada por sobreproducción de oxalato por una deficiencia enzimática intrahepática, lo que lleva a litiasis renal, nefrocalcinosis y daño renal crónico. Varón de 17 años con antecedentes de infecciones urinarias, y litiasis renal desde los 6 años. Desarrolló insuficiencia renal crónica terminal a los 11 años ingresando a terapia de diálisis peritoneal crónica ambulatoria. Durante su evolución presentó dolor a nivel de la columna vertebral y grandes articulaciones como tobillos, rodillas y hombros, deformación progresiva de las articulaciones distales de las manos. La resonancia magnética de columna reporto aplastamiento de cuerpos vertebrales en D8 y D9. La biopsia ósea de vértebra mostró depósito de cristales de oxalato de calcio. El estudio genético confirmó el diagnóstico de hiperoxaluria primaria tipo 2, esta enfermedad debe sospecharse en niños que forman cálculos a temprana edad, sería el primer caso reportado en Perú.
Primary hyperoxaluria type 2 is a rare disease characterized by over production of oxalate due to a deficiency of an intra hepatic enzyme leading to renal lithiasis, nephrocalcinosis and chronic kidney damage. We report the case of 17-year-old male patients with history of urinary tract infections and renal lithiasis since the age of 6 years. The patient developed end-stage kidney disease at the age of 11 years receiving chronic ambulatory peritoneal dialysis. He developed back pain and polyarthralgia of the ankles, knees, shoulders and progressive deformity of the hands. The magnetic resonance of the spine revealed flattening of D9-D9. Bone biopsy of the affected area showed presence of calcium oxalate. A genetic study confirmed the diagnosis of primary hyperoxaluria type 2. This entity should be suspected in children with renal stones at an early age, this may be the first case in Peru.
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Our prospective, randomised controlled study was to assess the role of oral pyridoxine (Vitamin B6) supplementation in addition to standard dietary advice, compared against only dietary advice, in the reduction of urinary oxalate levels in patients with urinary calculi along with proven hyperoxaluria. 74 subjects were randomly divided into Interventional Group (n=38) who received oral Pyridoxine 40mg/day with dietary oxalate restriction and Control Group (n=36) who received only dietary oxalate restriction. Both groups were evaluated and statistically compared at the end of 3 months. Interventional group showed statistically significant (p = 0.0001) reduction in 24 hours urinary oxalate levels. Pyridoxine, cofactor in the alanine–glyoxalate–transaminase pathway converts glyoxalate to glycine and reduces oxalate production thereby decreasing hyperoxaluria, risk factor of urolithiasis. Oral Pyridoxine supplementation (40 mg/day) with dietary oxalate restriction can be a prophylactic measure for prevention of recurrence of calcium oxalate urolithiasis.
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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.
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Humanos , Edad de Inicio , Diálisis , Estudios de Asociación Genética , Genotipo , Concentración de Iones de Hidrógeno , Hiperoxaluria Primaria , Fallo Renal Crónico , Trasplante de Riñón , Hígado , Trasplante de Hígado , Registros Médicos , Trasplante de Órganos , Fenotipo , Retinaldehído , Estudios Retrospectivos , TrasplantesRESUMEN
ABSTRACT Introduction: Secondary hyperoxalemia is a multifactorial disease that affects several organs and tissues in patients with native or transplanted kidneys. Plasma oxalate may increase during renal failure because it is cleared from the body by the kidneys. However, there is scarce evidence about the association between glomerular filtration rate and plasma oxalate, especially in the early stages of chronic kidney disease (CKD). Methods: A case series focuses on the description of variations in clinical presentation. A pilot study was conducted using a cross-sectional analysis with 72 subjects. The glomerular filtration rate (GFR) and plasma oxalate levels were measured for all patients. Results: Median (IQR) GFR was 70.50 [39.0; 91.0] mL/min/1.73 m2. Plasma oxalate was < 5.0 µmol/L in all patients with a GFR > 30 mL/min/1.73m2. Among the 14 patients with severe CKD (GFR < 30 mL/min/1.73 m2) only 4 patients showed a slightly increased plasma oxalate level (between 6 and 12 µmol/L). Conclusion: In non-primary hyperoxaluria, plasma oxalate concentration increases when GFR < 30mL/min/1.73 m2 and, in our opinion, values greater than 5 µmol/L with a GFR > 30 mL/min/1.73 m2 are suggestive of primary hyperoxaluria. Further studies are necessary to confirm plasma oxalate increase in patients with low GFR levels (< 30mL/min/1.73 m2).
RESUMO Introdução: A hiperoxalemia secundária é uma doença multifatorial que afeta vários órgãos e tecidos em pacientes com rins nativos ou transplantados. O oxalato plasmático pode aumentar durante a insuficiência renal porque é eliminado do corpo pelos rins. No entanto, há evidências escassas sobre a associação entre taxa de filtração glomerular e oxalato plasmático, especialmente nos estágios iniciais da doença renal crônica (DRC). Métodos: uma casuística centrada na descrição das variações na apresentação clínica. Foi realizado um estudo piloto a partir da análise transversal com 72 indivíduos. As taxas de filtração glomerular (TFG) e os níveis plasmáticos de oxalato foram medidos para todos os pacientes. Resultados: A TFG mediana (IIQ) foi de 70,50 [39,0; 91,0] mL/min/1,73 m2. O nível plasmático de oxalato foi < 5,0 µmol/L em todos os pacientes com TFG > 30 mL/min/1,73 m2. Entre os 14 pacientes com DRC grave (TFG < 30 mL/min/1,73 m2), apenas quatro apresentaram ligeiro aumento do nível plasmático de oxalato (entre 6 e 12 µmol/L). Conclusão: Na hiperoxalúria não primária, a concentração plasmática de oxalato aumenta quando TFG < 30 mL/min/1,73 m2 e, em nossa opinião, valores superiores a 5 µmol/L com TFG > 30 mL/min/1,73 m2 sugerem presença de hiperoxalúria primária. Estudos adicionais são necessários para confirmar o aumento do oxalato plasmático em pacientes com níveis baixos de TFG (< 30 mL/min/1,73 m2).
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Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Oxalatos/sangre , Yohexol/metabolismo , Cromatografía Líquida de Alta Presión , Insuficiencia Renal Crónica/fisiopatología , Insuficiencia Renal Crónica/sangre , Tasa de Filtración Glomerular , Proyectos PilotoRESUMEN
Abstract Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly the kidney, leading to recurrent lithiasis, nephrocalcinosis and end stage renal disease (ESRD). In patients with ESRD that receive kidney transplantation alone, the disease has a relapse of 100%, with graft loss in a high percentage of patients in the first 5 years of transplantation. Three molecular disorders have been described in PH: mutation of the gene alanin glioxalate aminotransferase (AGXT); glyoxalate reductase/hydroxy pyruvate reductase (GRHPR) and 4-OH-2-oxoglutarate aldolase (HOGA1). We present two cases of patients with a history of renal lithiasis who were diagnosed with primary hyperoxaluria in the post-transplant period, manifested by early graft failure, with evidence of calcium oxalate crystals in renal biopsy, hyperoxaluria, hyperoxalemia, and genetic test compatible; they were managed with proper diet, abundant oral liquids, pyridoxine, hydrochlorothiazide and potassium citrate; however, they had slow but progressive deterioration of their grafts function until they reached end-stage chronic renal disease.
Resumo A hiperoxalúria primária (HP) é um distúrbio genético muito raro, caracterizado por deficiência total ou parcial das enzimas relacionadas ao metabolismo do glioxilato, superprodução de oxalato de cálcio que se deposita em vários órgãos (principalmente os rins) resultando em litíase recorrente, nefrocalcinose e doença renal terminal (DRT). Nos pacientes com DRT que recebem transplante renal, a doença apresenta recidiva em 100% dos casos, com perda do enxerto nos primeiros cinco anos após o transplante num elevado percentual de pacientes. Três distúrbios moleculares foram descritos na HP: mutação dos genes da alanina-glioxilato aminotransferase (AGXT), glioxilato redutase/hidroxipiruvato redutase (GRHPR) e 4-OH-2-oxoglutarato aldolase (HOGA1). Apresentamos dois casos de pacientes com histórico de litíase renal diagnosticados com hiperoxalúria primária no período pós-transplante, manifestada na forma de perda precoce do enxerto com evidências de cristais de oxalato de cálcio na biópsia renal, hiperoxalúria, hiperoxalemia e testes genéticos compatíveis. Os pacientes foram tratados com abordagem nutricional, líquidos orais em abundância, piridoxina, hidroclorotiazida e citrato de potássio. Contudo, os pacientes apresentaram deterioração lenta e gradual da função do enxerto e evoluíram para doença renal terminal.
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Humanos , Femenino , Adulto , Persona de Mediana Edad , Complicaciones Posoperatorias/diagnóstico , Hiperoxaluria Primaria/diagnóstico , Trasplante de RiñónRESUMEN
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 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.
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Humanos , Lactante , Recién Nacido , Peso al Nacer , Ácido Cítrico , Diagnóstico , Estudios de Seguimiento , Edad Gestacional , Hiperoxaluria , Recien Nacido Prematuro , Cuidado Intensivo Neonatal , Corea (Geográfico) , Nefrocalcinosis , Nefrolitiasis , Estudio Observacional , Pacientes Ambulatorios , Nutrición Parenteral Total , Parto , Pronóstico , Estudios Prospectivos , Factores de RiesgoRESUMEN
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.
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Humanos , Oxalato de Calcio , Diagnóstico , Epidemiología , Hipercalciuria , Hiperoxaluria , Incidencia , Cálculos Renales , Riñón , Nefrolitiasis , Recurrencia , Factores de Riesgo , Estados UnidosRESUMEN
Objective To investigate the effects of different calcium and magnesium concentration ratios in drinking water on renal lithogenesis and metabolism in rats with ethylene glycol (EG)-induced relative hyperoxaluria. Methods Normal SD rats were exposed to 0. 1% EG and different Ca2+ and Mg2+ concentration ratios (360/10, 120/10, 10/10, 10/40, and 10/80, in mg/L) in drinking water for 8 weeks. After the treatments , 24 h urine volume and oxalate , citrate , Ca2+ , and Mg2+ levels weremeasured , and the serum creatinine , blood urea nitrogen (BUN) , Ca2+, and Mg2+ levels and renal pathologies were examined. Results No significant differences were found among the groups in body weight , water intake , 24 h urine volume , 24 h urinary citrate excretion , blood Ca2+ and Mg2+ levels , or serum creatinine. Ca/Mg ratios of 10/10 and 10/40 in drinking water caused a significant increase in kidney weight (P2+ excretion as compared with the normal control group (P2+ and Mg2+ concentrations that are below the limits in hard water can cause decreased 24 h urinary oxalate excretion. In uncomplicated hyperoxaluria, only a sufficiently high oxalate concentration can lead to lithogenesis. Urinary citrate is not affected by Ca2+ or Mg2+ ratios in drinking water.
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Objective To describe the clinical characteristics of one child with primary hyperoxaluria types Ⅲ, and to analyze the potential mutant genes in his family.Methods AGXT, GRHPR and HOGA1 genes were analyzed by direct sequencing analysis in this family.One hundred unrelated healthy subjects were also analyzed as controls.Results The child had early onset of symptoms (0.8 year).His principal clinical manifestation included nephrolithiasis and obstructive nephropathy, however his nephrocalcinosis was mild.And he presented high urine oxalate, high urine calcium, and lower citrate levels.Two novel heterozygous mutations in HOGA1 were identified (compound heterozygous), one mutation was a 2-bp substitution at the last position in exon 6 and the first position of intron 6 respectively (c.834_834 + 1GG ＞ TT);another was a guanine to adenine substitution of the last nucleotide of exon 6 (c.834G ＞ A).Both of these variants found in this study probably acted as splicing mutations.Direct sequencing analysis failed to find these mutations in 100 unrelated healthy subjects.In addition, a SNP (c.715G ＞ A, p.V239I) was found in this family.There were no mutations detected in AGXT and GRHPR.Conclusions Two novel mutations are identified probably in association with PH Ⅲ.This is the first description and investigation on mutant gene analysis of PHⅢ in Asia.
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INTRODUCTION: Despite of benefits of bariatric surgery for obesity treatment, the procedure may be related to some complications. AIM: Analyze studies to address the relation between nephrolithiasis and bariatric surgery. METHODS: Ten papers about this theme were selected from 2005-2013 in Pubmed, describing the relation of nephrolithiasis or their risk factors with several types of bariatric surgery. RESULTS: Retrospective studies with minimal follow-up of three years demonstrated 7,65% in surgery patients and 4,63% non-surgery with nephrolithiasis (p<0,05). Prospective studies (8 of 10) revealed large percentage of calculi appearing and significant increase in oxaluria. CONCLUSION: There is correlation between obesity surgery and nephrolithiasis. .
INTRODUÇÃO: Apesar dos benefícios das operações bariátricas para o tratamento da obesidade, elas podem acompanhar algumas complicações. OBJETIVO: Analisar estudos que enfoquem a relação entre nefrolitíase e procedimentos cirúrgicos bariátricos. MÉTODOS: Foram selecionados 10 estudos de 2005 a 2013 no PubMed que descreviam a relação de nefrolitíase ou seus fatores de risco com diversas técnicas de cirurgia bariátrica. RESULTADOS: Estudos retrospectivos, com seguimento por no mínimo três anos, demonstraram que 7,65% dos pacientes operados e 4,63% dos não operados apresentaram nefrolitíase (p<0,05). Estudos prospectivos (8 dos 10) verificaram grande porcentagem de aparecimento de nefrolitíase ou aumento significativo na oxalúria. CONCLUSÃO: Os estudos mostraram que há relação entre operações para obesidade e nefrolitíase. .
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Humanos , Cirugía Bariátrica/efectos adversos , Cirugía Bariátrica/métodos , Nefrolitiasis/etiología , Obesidad/cirugía , Enfermedades del Sistema Endocrino/complicaciones , Enfermedades Metabólicas/complicaciones , Factores de RiesgoRESUMEN
Objective: To establish a method of reversal phase-high performance liquid chromatography (RP-HPLC) for determining the mass concentration of oxalate in human plasma and urine and to monitor the variation of mass concentration of oxalate in the patients with primary hyperoxaluria (PH) before and after combined liver-kidney transplantation. Methods: Agilent XDBC18 (150 mm × 4.6 mm, 5 μm) column and Agilent Zorbax extend-C18 (12.5 mm × 4.6 mm, 5 μm) guard column were used. Methyl alcohol and aqueous solution containing 0.1 mol/L ammoniom acetate (15∶85) were used as mobile phase. The flow rate was at 1.2 mL/min, ultraviolent determination wavelength was 314 nm, column temperature was at 26.3 ℃, and injection volume was 50 μL. o-phenylenediamine was used as derivating agent, reacted with oxalate in human plasma and urine so as to obtain the compound with better ultraviolet absorption-2, 3-dyhydroxy quinoxaline. Results: The detection limit in human plasma was 0.3 mg/L, the linear range was 1.953-125 mg/L, the average recovery was 94.89%, and its RSD was 4.1%; The detection limit in urine was 0.5 mg/L, the linear range was 1.953-125 mg/L, the average recovery was 94.31%, and its RSD was 3.2%. Conclusion: The method is believable for determining the mass concentration of oxalate with its simplicity, sensibility, repeatability, and better recovery rate.