Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020500 (hyperoxaluria)
 912 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In three patients with end-stage renal failure due to primary hyperoxaluria type 1, successful combined liver-kidney transplantation enabled us to assess the insoluble oxalate pool, which was compared with the histopathological changes observed in iliac crest biopsy specimens. Good correlation was observed between the histopathological grade of bone oxalosis and the estimated oxalate content of the body. In the end-stage of oxalate bone disease, hyperparathyroidism does not play a significant role in bone resorption, which appears to be the consequence of the granulomatous reaction induced by oxalate deposition. Combined liver-kidney transplantation should be performed long before this stage. Early hepatorenal grafting in uremia secondary to primary hyperoxaluria type 1 would avoid the deleterious clinical consequences of systemic oxalosis and shorten the duration of postransplant hyperoxaluria, which may compromise the course of kidney graft.
 ...
PMID:Combined liver-kidney transplantation in primary hyperoxaluria type 1. Bone histopathology and oxalate body content. 760 40

The rate of the clinical adoption of the so-called pre-emptive transplantation is widely different among countries. In North America it represents 25 % of the total living donor transplantations; in Norway and Sweden it is 15 % and 9 %, respectively, of all grafts performed; in Italy it is less than 1%, whilst in countries like Austria, Germany and Ireland pre-emptive transplantation is nonexistent. Some concern on this type of transplantation was raised in the Seventies and were mainly based on the evidence that uraemia has an immunosuppressive effect, which could be weaker in the pre-dialysis period. Several clinical observations in the pre- cyclosporin era supported this assumption. Starting from the Eighties, however, several studies have demonstrated that pre-emptive transplantation may yield better recipient and graft survival. Moreover, a recent retrospective study, based on higher than 8000 living donor grafts that included both treated and untreated by long-term dialysis before transplantation, showed in the pre-emptive cohort a 52 % reduction in graft losses after the first year and also a lower incidence of acute rejections. Among the advantages of pre-emptive transplantation we find better rehabilitation and especially a lower risk of job loss. The risk of poorer patient compliance, as initially pointed out, has no longer been reported and can be overcome by adequate psychological preparation of the patient. Most centres performing pre-emptive transplantation favour the use of living donor because of the general shortage of cadaver kidney vs. the increasing number of dialysed patients on the waiting list. Nevertheless, in special circumstances (national programs with short waiting lists, uremic type I diabetics, children, primary type I hyperoxaluria), some AA also recommend the use of the cadaver donor.
 ...
PMID:[Kidney transplantation before starting dialysis therapy]. 1219 16

To determine the clinical, biological, and radiological futures of primary hyper-oxaluria type 1 in Tunisian children, we retrospectively studied 44 children with primary hyper-oxaluria type 1 who were treated in our center from 1995 to 2009. The diagnosis was established by quantitative urinary oxalate excretion. In patients with renal impairment, the diagnosis was made by infrared spectroscopy of stones or kidney biopsies. The male-to-female ratio was 1:2. The median age at diagnosis was 5.75 years. About 43% of the patients were diagnosed before the age of five years with initial symptoms dominated by uremia. Four patients were asymptomatic and diagnosed by sibling screenings of known patients. Nephrocalcinosis was present in all the patients; it was cortical in 34%, medullary in 32%, and global in 34%. At diagnosis, 12 (27%) children were in end-stage renal disease. Pyridoxine response, which is defined by a reduction in urine oxalate excretion of 60% or more, was obtained in 27% of the cases. In the majority of patients, the clinical expression of primary hyperoxaluria type 1 was characterized by nephrocalcinosis, urolithiasis, and renal failure; pyridoxine sensitivity was associated with better outcome.
 ...
PMID:Primary hyperoxaluria type 1 in Tunisian children. 2238 46