1/47. diagnosis and management of primary hyperoxaluria type 1 in infancy.We report a case of a 6-month-old infant who presented with failure to thrive due to end-stage renal disease as a result of primary hyperoxaluria type 1. The infant was managed with a combined daily hemodialysis and peritoneal dialysis prescription in order to manage the total body oxalate burden. Medical management included oral pyridoxine, aggressive hydration and nutritional supplementation via an enteral feeding tube. At one year of age the infant underwent a combined liver/kidney transplantation with intra- and daily post-operative hemodialysis to prevent oxalate deposition in the newly transplanted organs. The post-operative course was complicated by gross hematuria and increased hyperoxaluria, requiring an increase in hydration and thiazide diuretics. This infant received a combination of dialysis modalities which was designed to lower the potential oxalate burden prior to transplantation. This case illustrates the difficulty in medical management of an infant pre- and post-combined liver/kidney transplantation.- - - - - - - - - - ranking = 1keywords = kidney (Clic here for more details about this article) |
2/47. Oxalate kinetics and reversal of the complications after orthotopic liver transplantation in a patient with primary hyperoxalosis type 1 awaiting renal transplantation.We present the case of a young woman with end-stage renal disease secondary to primary hyperoxaluria type 1, who after 3 years and 6 months of maintenance hemodialysis, and despite intensification of the dialytic treatment, developed severe livedo reticularis in her extremities leading to ischemic cutaneous ulcerations, necessitating continuous intravenous infusion of narcotics for pain control. She received a liver transplant after native hepatectomy. However, due to positive crossmatch, she could not receive a kidney from that donor. After transplantation, following serial serum oxalate levels, the hemodialysis regimen was safely reduced from 4 h daily to 3 h three times weekly. Over the course of 6 weeks after liver transplantation, her livedo reticularis resolved, the ischemic ulcers markedly improved, she was weaned off all pain medications, and her erythropoietin-resistant anemia resolved. Our results suggest that in patients with primary hyperoxaluria type 1, who have received a liver transplant and are on maintenance hemodialysis, after serial serum oxalate determinations, some may safely be changed to a thrice-weekly maintenance hemodialysis regimen. Moreover, with this regimen the complications of systemic oxalosis can reverse.- - - - - - - - - - ranking = 0.5keywords = kidney (Clic here for more details about this article) |
3/47. Primary hyperoxaluria 1: catch up growth and normalization of oxaluria 6 years after hepatorenal transplantation in a prepubertal boy.We present data on urinary oxalate (U(OX)), renal function, growth and bone age in a 10-year-old male with primary hyperoxaluria type 1. The patient had undergone combined liver-kidney transplantation at the age of 4.5 years. UOX increased up to 10(4) micromol/24 h after transplantation and declined to normal values thereafter. Excessive Uox concentrations after surgery might have been due to a bone pool of unsoluble oxalate and declined spontaneously. creatinine clearance remained stable during observation period. The boy showed significant catch up growth. Height standard deviation score for chronological age improved from -2.4 before transplantation to -0.3 after 6 years. Radiological bone density improved at the same time. Hepatorenal transplantation should be performed in children with primary hyperoxaluria 1 before end-stage renal failure to normalize oxalate excretion and improve growth and bone mineralization.- - - - - - - - - - ranking = 0.5keywords = kidney (Clic here for more details about this article) |
4/47. hypothyroidism in primary hyperoxaluria type 1.We describe 4 patients, aged 3 months to 23 years, with end-stage renal disease and severe, symptomatic hypothyroidism. All 4 had primary hyperoxaluria type 1 (PH1) with diffuse tissue (kidneys, skeleton, eyes, heart) calcium-oxalate deposition, a condition known as oxalosis. The hypothyroidism responded to thyroid hormone replacement therapy. Clinical hypothyroidism within the framework of PH1/oxalosis was probably caused by thyroid tissue damage from an abundance of calcium oxalate. We recommend that thyroid function be monitored in patients with PH1 and oxalosis.- - - - - - - - - - ranking = 0.5keywords = kidney (Clic here for more details about this article) |
5/47. Liver-kidney-transplantation in type 1 primary hyperoxaluria: description and comments on a case.BACKGROUND: Primary hyperoxaluria leads to oxalosis, a systemic illness with fatal prognosis in uremic youngsters because of systemic complications. Case report: A 14-year old boy with primary type 1 hyperoxaluria who had a long-lasting history of nephrolithiasis and passed from normal renal function to end-stage renal disease within 7 months. MEASUREMENT of alanine: glyoxylate aminotransferase (AGT) catalytic activity in the liver biopsy disclosed very low activity which was not. responsive to pyridoxin., thus the patient entered onto a priority national waiting list for liver-kidney transplantation and a week later received a combined transplant. In order to increase body clearance of oxalate, the patient underwent medical treatment to increase urine oxalate solubility (sodium and potassium citrate oral therapy, magnesium supplementation and increase of diuresis) and intensive dialysis both before and after transplantation. comment: The medical approach to the treatment of this rare illness is discussed. Since the major risk for the grafted kidney is related to the oxalate burden, i.e. oxalate deposition from the body deposits to the kidney that becomes irreversibly damaged, treatment consists of increasing the body clearance of oxalate both by increasing oxalate solubility in the urine and with intensive dialysis performed both before and after combined transplantation. To the same extent (by limiting body oxalate deposits), a relatively early (native GFR 20-25 ml/minute) transplantation is advisable.- - - - - - - - - - ranking = 3.5keywords = kidney (Clic here for more details about this article) |
6/47. Dilemma of oxalosis in end stage renal failure: isolated kidney allograft or hemodialysis.We report the case of a 10-year-old girl who received a cadaveric kidney transplant for oxalosis after a period of 12 months on hemodialysis. The donor was a 6-year-old child. cold ischemia was four hours. diuresis occurred immediately in the operating room. Mean daily diuresis was maintained at 8 liters: first by i.v. perfusion, then by nocturnal continuous nasogastric hydration. In addition to the usual immunosuppressive drugs, she received pyridoxine, sodium citrate, phosphate, hydrochlorothiazide and magnesium. Daily hemodialysis was performed from Day 1 to Day 9 and four additional sessions every other day. The postoperative course was satisfactory. Oxaluria was elevated initially at 1074 mg/24 h (normal < 50 mg/24 h). One year later, mean daily diuresis is still 8 liters, renal function is normal and oxaluria is at 296 mg/24 h. Repeated graft sonography showed no nephrocalcinosis, but mild oxalate deposits are noted on renal biopsy. Isolated renal transplantation was successful in our patient. It allowed us to stop hemodialysis and to avoid extra-renal accumulation of oxalate. Despite this success, we are convinced that long term prognosis is uncertain and liver transplantation should be realized to correct definitely the biochemical defect.- - - - - - - - - - ranking = 2.5keywords = kidney (Clic here for more details about this article) |
7/47. A case of late-onset primary hyperoxaluria type 1.Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder characterized by recurrent urolithiasis and nephrocalcinosis frequently leading to progressive renal insufficiency during the second decade of life. Systemic organ involvement as a result of the accumulation of calcium oxalate crystal deposits in vessel walls often is observed. We report a case of a 56-year-old woman with late-onset of PH1 who developed rapidly progressive renal failure and severe systemic oxalosis with skin and eye involvement despite intensified hemodialytic therapy during the waiting period for combined liver and kidney transplantation. This case illustrates the difficulties in treatment of PH1-induced end-stage renal disease. Combined liver and kidney transplantation should be offered to these patients as soon as possible to reverse the underlying metabolic defect and to restore renal function.- - - - - - - - - - ranking = 1keywords = kidney (Clic here for more details about this article) |
8/47. Reversal of oxalosis cardiomyopathy after combined liver and kidney transplantation.Few data have been published on the course of oxalosis cardiomyopathy after combined liver and kidney transplantation in hyperoxaluria patients with myocardial involvement. We report the case of a primary hyperoxaluria type 1 patient with renal failure who developed end-stage cardiomyopathy. Left venticulography showed severe diffuse hypokinesia and left ventricular ejection fraction was calculated at 12%. Endomyocardial biopsy demonstrated platelike calcium oxalate crystals within the myocardium and the connective tissue, and mild perivascular fibrosis. The patient was first considered for combined liver-heart-kidney transplantation, but as his cardiac function improved slightly with an intensive dialysis program, combined liver and kidney transplantation was performed. Normal cardiac function was demonstrated at 1-year follow-up, and comparative endomyocardial biopsy showed regression of the myocardial oxalate deposits. This case adds stronger clinical, hemodynamic, and histopathological evidence that severe oxalosis cardiomyopathy may be reversed after combined liver and kidney transplantation.- - - - - - - - - - ranking = 4keywords = kidney (Clic here for more details about this article) |
9/47. Living related kidney transplantation in a 15-year-old patient with type I hyperoxaluria: a case report.The following is a case report of a patient with type I hyperoxaluria who received a living related renal transplant for end-stage renal disease. The deficiency or complete absence of the hepatic enzyme alanine glyoxalate aminotransferase characterizes type I hyperoxaluria. When deficient, an overproduction of oxalate occurs, which then can be deposited in multiple end-organ systems. When performing surgery on a patient with type I hyperoxaluria, the anesthetist needs to be aware that these patients can have a host of problems ranging from cardiovascular anomalies to end-stage renal disease. A careful assessment of each system needs to be performed, along with vigilant planning of the anesthetic regimen. Through proper planning and implementation, a safe and effective anesthetic usually can be performed.- - - - - - - - - - ranking = 2keywords = kidney (Clic here for more details about this article) |
10/47. Primary hyperoxaluria: a rare but important cause of nephrolithiasis.We report on a middle-aged man with end-stage renal failure apparently secondary to recurrent renal stones. He developed systemic oxalosis soon after commencing dialysis. The diagnosis of primary hyperoxaluria type 1 was supported by the finding of high dialysate glycolate excretion. The patient subsequently received an isolated cadaveric renal transplant, but the outcome was a rapid recurrence of oxalosis and early graft failure. Although isolated liver or renal transplantation in addition to various adjuvant measures may be considered in the early stage, combined liver-kidney transplantation remains the only definitive therapy for a patient with end-stage renal failure and systemic oxalosis due to hyperoxaluria type 1. This case illustrates the possible late presentation of primary hyperoxaluria type 1 and the poor outcome with isolated renal transplantation after the development of systemic oxalosis. One should thus have a high index of suspicion in patients with recurrent renal stones of this rare, but nevertheless important, entity.- - - - - - - - - - ranking = 0.5keywords = kidney (Clic here for more details about this article) |
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