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

Of the 4,776 first grafts recorded in the pediatric European Dialysis and Transplant Association (EDTA) registry, 2,113 were reported to have failed and 5.6% of graft failures were related to a recurrence of primary renal disease. Nephrotic syndrome with focal and segmental glomerulosclerosis was the main renal disease prone to recur because recurrence represented 20% of the causes of graft failure in these patients; an even higher proportion was reported in a single-center experience in Europe. Other glomerulonephropathies, such as membranoproliferative glomerulonephritis and Berger's disease, were also reported to be the cause of graft failure by means of recurrence in a proportion similar to focal and segmental glomerulosclerosis. The usual recurrence of primary oxaluria was the cause of close to 50% of graft failure in this disease. Finally, hemolytic uremic syndrome recurred rarely with the graft in the EDTA registry, which is the opposite of what was reported in the United States.
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PMID:Recurrence of primary renal disease on kidney graft: a European pediatric experience. 149 84

The aim of this study was to assess the frequency and clinical implications of a recurrence of the original renal disease in children after kidney transplantation. Thus, the records of patients with immunological and metabolic diseases transplanted between 1970 and 1994 were retrospectively analyzed. There were 113 renal transplantations in 99 patients, who had the following original diseases: focal segmental glomerulosclerosis (FSGS), membrano-proliferative glomerulonephritis type I and type II (MPGN I, II), Henoch-Schoenlein nephritis, IgA-nephropathy, hemolytic uremic syndrome (HUS) and hyperoxaluria type I (PH I) and other rare diseases. Recurrences were observed in FSGS, MPGN II, HUS and PH I but not in the other diseases. In FSGS, the recurrence rate was 20% with graft failure in 5 of 6 grafts. No specific risk factors for recurrent FSGS could be determined. In MPGN II, the recurrence was 60% but the loss of grafts occurred at the same rate as in the non-recurrence group. In HUS, recurrence was seen in 4 out of 24 renal grafts (16.6%) with subsequent graft loss in all cases. All cases had suffered from an atypical HUS. PH I recurred in 4 of 5 allografts with graft loss in all patients. The remaining graft was transplanted after a liver transplantation and graft function was well preserved for 4 years. We confirm that the risk of recurrence with loss of the graft is high in a certain group of renal diseases. In these the indication for transplantation, particularly with living related donor kidneys, needs special evaluation. A better understanding of the pathomechanism of the diseases should lead to prevention of recurrence, as in PH I in which a liver transplant is now the primary option.
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PMID:Recurrence of renal disease after kidney transplantation in children: 24 years of experience in a single center. 952 77

A 6-month-old boy presented with acute renal failure, thrombocytopenia, and severe non-immune hemolytic anemia. Infection by Shiga-like toxin-producing Escherichia coli and other causes of microangiopathic hemolysis were ruled out, leading to a diagnosis of atypical hemolytic uremic syndrome (aHUS). Neither pathogenic variants in HUS-associated genes nor anti-factor H antibodies were identified. Copy number variation analysis uncovered 4 copies of complement factor H related genes, CFHR1-CFHR4, conceivably leading to higher than normal levels of the corresponding proteins. However, this abnormality was also found in the healthy relatives, neither explaining the disease nor the excessive complement deposition on endothelial cells detected by an ex-vivo test. Whole-exome sequencing revealed a pathogenic homozygous variant in GRHPR encoding the glyoxylate and hydroxypyruvate reductase. Recessive GRHPR mutations cause primary hyperoxaluria type 2 (PH2). The presence of renal calculi in the patient and elevated oxalate levels in the urine were consistent with the genetic diagnosis of PH2. We hypothesize that, in this patient, hyperoxaluria caused by the GRHPR genetic defect triggered endothelial perturbation and complement activation, which was amplified by impaired factor H regulatory activity due to the increased -CFHR1-CFHR4 copy numbers, resulting in aHUS.
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PMID:Hemolytic Uremic Syndrome in an Infant with Primary Hyperoxaluria Type II: An Unreported Clinical Association. 3088 67