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primary hyperoxaluria Type 1 in Adulthood: Case Series

Open Journal of Nephrology 2024年第3期14卷 350-360页

作者： Sara El Maakoul Nada El Kadiri Nabil Hmaidouch Salma Belmokadem Loubna Benamar Tarik Bouattar Naima Ouzeddoun Department of Nephrology Dialysis Renal Transplantation Ibn Sina University Hospital-Rabat Rabat Morocco Faculty of Medicine and Pharmacy Mohammed V University Rabat Morocco

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.

关键词： primary hyperoxaluria Adulthood Kidney Disease

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primary and secondary hyperoxaluria: Understanding the enigma

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World Journal of Nephrology 2015年第2期4卷 235-244页

作者： Bhavna Bhasin Hatice Melda ürekli Mohamed G Atta Division of Nephrology Medical University of South Carolina Suleyman Demirel University Faculty of Medicine Division of Nephrology Johns Hopkins University

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 becau

关键词： primary hyperoxaluria Transplantation Renal stones Secondary hyperoxaluria Renal failure

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Combined liver-kidney transplantation for rare diseases

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World Journal of Hepatology 2020年第10期12卷 722-737页

作者： Mladen Knotek Rafaela Novak Alemka Jaklin-Kekez Anna Mrzljak Department of Medicine Tree Top HospitalHulhumale 23000Maldives Department of Medicine Merkur University HospitalZagreb 10000Croatia School of Medicine University of ZagrebZagreb 10000Croatia Clinic for Pediatric Diseases Helena Zagreb 10000Croatia

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 *** aim of the present review is to provide the most up-to-date overview of the rare conditions as indications for *** are major indications for CLKT in ***,in some of them(e.g.,atypical hemolytic uremic syndrome or primary hyperoxaluria),CLKT may be required in adults as *** hyperoxaluria is divided into three types,of which type 1 and 2 lead to *** has been proven effective in renal function replacement,at the same time preventing recurrence of the *** is associated with liver fibrosis in 5%of cases and these patients are candidates for *** alpha 1-antitrypsin deficiency,hereditary C3 deficiency,lecithin cholesterol acyltransferase deficiency and glycogen storage diseases,glomerular or tubulointerstitial disease can lead to chronic kidney *** transplantation as a part of CLKT corrects underlying genetic and consequent metabolic *** atypical hemolytic uremic syndrome caused by mutations in the genes for factor H,successful CLKT has been reported in a small number of ***,for this indication,CLKT has been largely replaced by eculizumab,an anti-C5 *** 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.

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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Open Journal of Nephrology 2022年第2期12卷 214-221页

作者： Kamel El-Reshaid Shaikha Al-Bader Department of Medicine Faculty of Medicine Kuwait University Kuwait City Kuwait Department of Medicine Nephrology Unit Amiri Hospital Ministry of Health Kuwait City Kuwait

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.

关键词： Hypercalcemia Hypercalciuria Medullary Nephrocalcinosis Mutation primary hyperoxaluria

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