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Query: UMLS:C0020500 (hyperoxaluria)
 912 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary hyperoxaluria type 1 (PH 1) is complicated by a high rate of early end-stage renal failure (ESRF). In ESRF combined liver kidney transplantation has emerged as treatment of choice for teenagers and adults. In chronic renal failure (CRF) and for small children the situation is less clear. We report on three isolated liver transplantations and show the data of young children from the European Registry for liver transplantation in PH 1. Patient #1 developed ESRF at 3 months of age. Deficiency of alanine:glyoxylate aminotransferase proved PH 1. Progressive bone disease developed and the boy received a living related liver graft (LRLTx) at age two. Due to recurrent cholangitis kidney transplantation (KTx) is currently not feasible. Plasma oxalate decreased after LRLTx indicating correction of the metabolic defect. Patient #2 was diagnosed at the age of 14 months. He had nephrocalcinosis and hyperglycolic hyperoxaluria. Two years later he developed ESRF. At 5 years of age isolated liver transplantation was performed as a first step of therapy. Due to prolonged warm ischemia time organ function was poor. A severe bleeding complicated the course. The child died four weeks after transplantation from untreatable CMV septicemia. Patient #3 was evaluated for failure to thrive at 6 months of age. Urinary oxalate/creatinine ratio was 705 mumol/mol and gave rise to the diagnosis of PH 1. Renal failure slowly progressed to a creatinine clearance of 20 ml/min/1.73 m2 at 8 years, when liver transplantation (LTx) was performed. Four months later, GFR has not changed. Liver function and urinary oxalate/creatinine ratio are normal. Slowly deteriorating chronic renal failure can be stabilized through isolated liver transplantation and thus the rapid need for KTx will at least be delayed. Even more important, normalization of the oxalate metabolism prevents extrarenal oxalate deposits during renal failure.
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PMID:Transplantation procedures in primary hyperoxaluria type 1. 883 45

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.
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PMID:Diagnosis and management of primary hyperoxaluria type 1 in infancy. 1008 81

This retrospective survey examines the etiology of nephrocalcinosis (NC) in 40 patients (26 boys), over an 8-year period. The median age at onset of symptoms and presentation was 36 months and 72 months, respectively. Clinical features included marked failure to thrive (82.5%), polyuria (60%) and bony deformities (52.5%). The etiology of NC included distal renal tubular acidosis (RTA) in 50% patients and idiopathic hypercalciuria and hyperoxaluria in 7.5% each. Other causes were Bartter syndrome, primary hypomagnesemia with hypercalciuria, severe hypothyroidism and vitamin D excess. No cause for NC was found in 12.5% patients. Specific therapy, where possible, ameliorated the biochemical aberrations, although the extent of NC remained unchanged. At a median (range) follow up of 35 (14-240) months, glomerular filtration rate (GFR) had declined from 82.0 (42-114) ml/min per 1.73 m2 body surface area to 70.8 (21.3-126.5) ml/min per 1.73 m2 body surface area (P = 0.001). Our findings confirm that, even with limited diagnostic facilities, protocol-based evaluation permits determination of the etiology of NC in most patients.
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PMID:Etiology of nephrocalcinosis in northern Indian children. 1728 94

Nephrocalcinosis (NC) is defined as deposition of calcium crystals in the renal parenchyma and tubules. This is a retrospective review of all the data of 63 children presented to Pediatric Nephrology Clinic at King Hussein Medical Center (KHMC) over a 15-year period with bilateral NC. We determine their causes, clinical presentation and evaluate their growth and renal function during their follow-up. Thirty-five (55.5%) cases were males and 28 (44.5%) were females. The median (range) age at presentation was four (2-192) months. The most common leading cause to NC was hereditary tubulopathy in 48% followed by hyperoxaluria in 35%. The cause of NC remained unknown in 3% and Vitamin D excess accounts for 5% of the cases. The most presenting symptom was a failure to thrive (68%) and the second most common symptom was abdominal pain and recurrent urinary tract infection was found in 40%, polyuria and polydipsia were found in 32% of cases, and 16% of cases were diagnosed incidentally. At a median follow-up of 38 (14-200) months, estimated glomerular filtration rate had decreased from 84.0 (42-110) mL/min per 1.73 m2 body surface area to 68.2 (10-110) mL/min/1.73 m2 body surface (P = 0.001). This study illustrated the need for a national registry of rare renal diseases to help understand the causes of these conditions in our populations and provide support to affected patients and their families.
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PMID:Nephrocalcinosis among children at king hussein medical center: Causes and outcome. 2893 64

Nephrocalcinosis (NC) is a renal disease characterized by deposition of calcium salts into the renal medulla. There are several causes, organic, iatrogenic, hereditary and sometimes related to extrarenal diseases. We studied 34 children affected by NC, 21 M and 13 F (average age at diagnosis 7.8 months), with the aim of analyzing the associated diseases, clinical manifestations, metabolic abnormalities, growth and renal function at onset and after follow-up. At onset 70% of patients were asymptomatic and diagnosis was occasional. Renal function was normal in 33 patients. The most frequent clinical symptoms were failure to thrive (9%), abdominal pain (6%), proteinuria/hematuria (7%). The associated diseases were: tubulopathies (8 pcs - tubular acidosis, Dent, Bartter and Lowe Syndromes), medullary sponge kidney, policalicosis (3 pcs ), Short bowel Syndrome (3 pcs), hyperparathyroidism, hypothyroidism (2 pcs), thalassemia (1pc), tyrosinemia (1 pc.). We recognized two forms of hypervitaminosis D. In a pc NC would be correlated with prematurity, another one with lipid necrosis. Among the metabolic abnormalities, observed in 25% of pcs, hyperoxaluria is the most frequent (47%), hypercalciuria (20%), hypercalcemia (15%). In some cases we found endocrine non pathogenic alterations: hypovitaminosis D (2 pcs) and hypoparathyroidism (6 pcs). During follow-up the growth was normal in 87% of cases and glomerular function was stable in 90% of pcs; IRC developed in 3 cases. From our analysis, it appears that the treatment of the underlying condition of NC is associated with catch-up growth and stabilization of renal function in most patients, but not with the reduction of the degree of the NC.
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PMID:[Nephrocalcinosis in children]. 2971 Apr 39