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Primary Hyperoxaluria Type 1 in Adulthood: Case Series
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作者 Sara El Maakoul Nada El Kadiri +4 位作者 Nabil Hmaidouch Salma Belmokadem Loubna Benamar Tarik Bouattar Naima Ouzeddoun 《Open Journal of Nephrology》 2024年第3期350-360,共11页
Introduction: Primary hyperoxaluria type 1 (HP1) is a rare lithiasis with systemic involvement, due to the accumulation of calcium oxalate crystals. In the absence of therapeutic management, it progresses to end-stage... Introduction: Primary hyperoxaluria type 1 (HP1) is a rare lithiasis with systemic involvement, due to the accumulation of calcium oxalate crystals. In the absence of therapeutic management, it progresses to end-stage chronic renal failure. The aim of this study is to describe and analyse the observations of our patients with HP1. Patients and methods: This is a retrospective study carried out between 2014 and 2023 in the Nephrology-Dialysis Transplant Department of the Ibn Sina University Hospital in Rabat. The clinical, paraclinical and evolutionary elements were taken from the patients’ medical records. Results: We collected 11 cases, with a mean age of 27 ± 8.5 years and a M/F sex ratio of 1.7. The diagnosis of HP1 was made on the basis of genetic analysis in 8 patients, morphological and spectro-photometric analysis of the calculus in one patient, biopsy of the graft in one patient and crystalluria and a family history of PH1 in one patient. Two patients died, and 8 patients were on chronic haemdialysis with systemic damage. Only one patient maintained a stable GFR at 60 ml/min. Conclusion: Early diagnosis combined with conservative treatment is the only way to limit the rapid progression of this disease. This requires awareness and collaboration between nephrologists, urologists and biologists within a specialised team. 展开更多
关键词 primary hyperoxaluria ADULTHOOD Kidney Disease
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Effect of liver transplantation with primary hyperoxaluria type 1:Five case reports and review of literature
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作者 Xin-Yue Wang Zhi-Gui Zeng +8 位作者 Zhi-Jun Zhu Lin Wei Wei Qu Ying Liu Yu-Le Tan Jun Wang Hai-Ming Zhang Wen Shi Li-Ying Sun 《World Journal of Clinical Cases》 SCIE 2023年第5期1068-1076,共9页
BACKGROUND Primary hyperoxaluria type 1(PH1)is a rare autosomal recessive disease stemming from a deficiency in liver-specific alanine-glyoxylate aminotransferase,resulting in increased endogenous oxalate deposition a... BACKGROUND Primary hyperoxaluria type 1(PH1)is a rare autosomal recessive disease stemming from a deficiency in liver-specific alanine-glyoxylate aminotransferase,resulting in increased endogenous oxalate deposition and end-stage renal disease.Organ transplantation is the only effective treatment.However,its approach and timing remain controversial.CASE SUMMARY We retrospectively analyzed 5 patients diagnosed with PH1 from the Liver Transplant Center of the Beijing Friendship Hospital from March 2017 to December 2020.Our cohort included 4 males and 1 female.The median age at onset was 4.0 years(range:1.0-5.0),age at diagnosis was 12.2 years(range:6.7-23.5),age at liver transplantation(LT)was 12.2 years(range:7.0-25.1),and the follow-up time was 26.3 mo(range:12.8-40.1).All patients had delayed diagnosis,and 3patients had progressed to end-stage renal disease by the time they were diagnosed.Two patients received preemptive LT;their estimated glomerular filtration rate was maintained at>120 mL/min/1.73 m2,indicating a better prognosis.Three patients received sequential liver and kidney transplantation.After transplantation,serum and urinary oxalate decreased,and liver function recovered.At the last follow-up,the estimated glomerular filtration rates of the latter 3 patients were 179,52 and 21 mL/min/1.73 m2.CONCLUSION Different transplantation strategies should be adopted for patients based on their renal function stage.Preemptive-LT offers a good therapeutic approach for PH1. 展开更多
关键词 primary hyperoxaluria type 1 Liver transplantation Combined liver and kidney transplantation Sequential liver and kidney transplantation Renal calculi End-stage renal disease Case reports
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Primary and secondary hyperoxaluria: Understanding the enigma 被引量:15
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作者 Bhavna Bhasin Hatice Melda ürekli Mohamed G Atta 《World Journal of Nephrology》 2015年第2期235-244,共10页
Hyperoxaluria is characterized by an increased urinary excretion of oxalate. Primary and secondary hyperoxaluria are two distinct clinical expressions of hyperoxaluria. Primary hyperoxaluria is an inherited error of m... Hyperoxaluria is characterized by an increased urinary excretion of oxalate. Primary and secondary hyperoxaluria are two distinct clinical expressions of hyperoxaluria. Primary hyperoxaluria is an inherited error of metabolismdue to defective enzyme activity. In contrast, secondary hyperoxaluria is caused by increased dietary ingestion of oxalate, precursors of oxalate or alteration in intestinal microfora. The disease spectrum extends from recurrent kidney stones, nephrocalcinosis and urinary tract infections to chronic kidney disease and end stage renal disease. When calcium oxalate burden exceeds the renal excretory ability, calcium oxalate starts to deposit in various organ systems in a process called systemic oxalosis. Increased urinary oxalate levels help to make the diagnosis while plasma oxalate levels are likely to be more accurate when patients develop chronic kidney disease. Defnitivediagnosis of primary hyperoxaluria is achieved by genetic studies and if genetic studies prove inconclusive, liver biopsy is undertaken to establish diagnosis. Diagnostic clues pointing towards secondary hyperoxaluria are a supportive dietary history and tests to detect increased intestinal absorption of oxalate. Conservative treatment for both types of hyperoxaluria includes vigorous hydration and crystallization inhibitors to decrease calcium oxalate precipitation. Pyridoxine is also found to be helpful in approximately 30% patients with primary hyperoxaluriatype 1. Liver-kidney and isolated kidney transplantation are the treatment of choice in primary hyperoxaluria type 1 and type 2 respectively. Data is scarce on role of transplantation in primary hyperoxaluria type 3 where there are no reports of end stage renal disease so far. There are ongoing investigations into newer modalities of diagnosis and treatment of hyperoxaluria. Clinical differentiation between primary and secondary hyperoxaluria and further between the types of primary hyperoxaluria is very important because of implications in treatment and diagnosis. Hyperoxaluriacontinues to be a challenging disease and a high index of clinical suspicion is often the first step on the path to accurate diagnosis and management. 展开更多
关键词 primary hyperoxaluria TRANSPLANTATION Renal stones Secondary hyperoxaluria Renal failure
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Late-onset primary hyperoxaluria type 1 in a Chinese individual with absent alanine: glyoxylate aminotransferase activity 被引量:2
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作者 黃炳南 唐美華 +3 位作者 麥肇嘉 盧建宜 黃煜 黃矩民 《Chinese Medical Journal》 SCIE CAS CSCD 2004年第12期1889-1890,共2页
关键词 end-stage renal failure · primary hyperoxaluria type 1 · renal transplantation
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Combined liver-kidney transplantation for rare diseases
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作者 Mladen Knotek Rafaela Novak +1 位作者 Alemka Jaklin-Kekez Anna Mrzljak 《World Journal of Hepatology》 CAS 2020年第10期722-737,共16页
Combined liver and kidney transplantation(CLKT)is indicated in patients with failure of both organs,or for the treatment of end-stage chronic kidney disease(ESKD)caused by a genetic defect in the liver.The aim of the ... Combined liver and kidney transplantation(CLKT)is indicated in patients with failure of both organs,or for the treatment of end-stage chronic kidney disease(ESKD)caused by a genetic defect in the liver.The aim of the present review is to provide the most up-to-date overview of the rare conditions as indications for CLKT.They are major indications for CLKT in children.However,in some of them(e.g.,atypical hemolytic uremic syndrome or primary hyperoxaluria),CLKT may be required in adults as well.Primary hyperoxaluria is divided into three types,of which type 1 and 2 lead to ESKD.CLKT has been proven effective in renal function replacement,at the same time preventing recurrence of the disease.Nephronophthisis is associated with liver fibrosis in 5%of cases and these patients are candidates for CLKT.In alpha 1-antitrypsin deficiency,hereditary C3 deficiency,lecithin cholesterol acyltransferase deficiency and glycogen storage diseases,glomerular or tubulointerstitial disease can lead to chronic kidney disease.Liver transplantation as a part of CLKT corrects underlying genetic and consequent metabolic abnormality.In atypical hemolytic uremic syndrome caused by mutations in the genes for factor H,successful CLKT has been reported in a small number of patients.However,for this indication,CLKT has been largely replaced by eculizumab,an anti-C5 antibody.CLKT has been well established to provide immune protection of the transplanted kidney against donor-specific antibodies against class I HLA,facilitating transplantation in a highly sensitized recipient. 展开更多
关键词 Combined liver-kidney transplantation Methylmalonic aciduria Hereditary complement C3 deficiency Glycogen storage diseases Homozygous protein C deficiency primary hyperoxaluria Atypical hemolytic uremic syndrome SENSITIZATION Donorspecific antibodies
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A Problem-Solving in a Case of Medullary Nephrocalcinosis
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作者 Kamel El-Reshaid Shaikha Al-Bader 《Open Journal of Nephrology》 2022年第2期214-221,共8页
Medullary Nephrocalcinosis (MNC) is defined as calcium deposition in tubular basement membrane and interstitium of the kidney medulla. It is 20 times more common than cortical one. In this case report, we present a 12... Medullary Nephrocalcinosis (MNC) is defined as calcium deposition in tubular basement membrane and interstitium of the kidney medulla. It is 20 times more common than cortical one. In this case report, we present a 12-year-boy who presented with persistent nocturnal enuresis for 8 years. Physical examination and routine tests were normal except for microscopic hematuria. Renal ultrasound showed extensive MNC. Twenty-four-hour urine collection revealed normal mineral metabolic screen with low urinary excretion of calcium, phosphorous, magnesium and uric acid yet high for oxalates. Hence, and based on the above-mentioned data, certain metabolic disorders were ruled out: 1) hyperparathyroidism, 2) excessive intake of vitamin D, 3) hypercalcemia, 4) hypercalciuria, 5) hyperuricemia, 6) hyperuricosuria, 7) hypocitraturia, 8) cystinuria, 9) lysinuria and 10) distal renal tubular acidosis were ruled out. Subsequently, urine testing showed high concentration of glycolate with low glycerate and 4-hydroxy-2-oxoglutarates establishing diagnosis of type 1 primary hyperoxaluria (PH I). Further confirmatory tests included: 1) kidney biopsy which showed typical crystals deposition, 2) liver biopsy that confirmed deficiency of the liver-specific peroxisomal enzyme alanine: glyoxylate aminotransferase (AGXT), and 3) full gene analysis that confirmed gene mutation. In conclusion, our case report provides practical algorithm for establishing diagnosis in MNC which is not renal-limited and its prognosis depends upon the underlying etiology. 展开更多
关键词 HYPERCALCEMIA HYPERCALCIURIA Medullary Nephrocalcinosis MUTATION primary hyperoxaluria
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