BACKGROUND In recent years, increased efforts have been undertaken to address the needs of patients with rare diseases by international initiatives and consortia devoted to rare disease research and management. However, information on the overall prevalence of rare diseases within the end-stage renal disease (ESRD) population is limited. The aims of this study were (i) to identify those rare di...

Abstract Background and Aims In primary hyperoxaluria type 1 (PH 1) a rare enzymatic defect in the liver leads to hepatic overproduction of oxalate. The resulting can cause nephrocalcinosis, urolithiasis renal failure. Conservative treatment options such as hyperhydration, citrate pyridoxine aim slow progression disease with transplant currently being only curative treatment. Since November 202...

Nous rapportons le cas d’un homme de 59 ans, pris en charge à son domicile dans un contexte syndrome confusionnel et crise tonicoclonique généralisée, chez lequel diagnostic d’intoxication par l’éthylène glycol a été établi l’issue l’examen histopathologique postmortem des organes. L’intoxication est rare, avec une centaine rapportés chaque année France. L’éthylène liquide incolore inodore prin...

Abstract Background and Aims Oxalate nephropathy is a rare cause of renal failure which usually due to primary or secondary hyperoxaluria. Secondary hyperoxaluria results from increased intake intestinal oxalate availability (enteric hyperoxaluria), degradation, colonic permeability [1]. Little known about the burden end stage kidney disease in this group patients as most initial literature was...

A 24-year-old woman with end-stage renal failure because of primary hyperoxaluria type 1 was evaluated in our hospital for systemic calcium oxalate deposition in the course of long-term (5 years) hemodialysis therapy. Diagnosis of primary hyp-eroxaluria type 1, a hereditary cause of calcium oxalate kidney stones or progressive nephrocalcinosis that frequently results in end-stage renal failure,...

Primary hyperoxaluria type 2 (PH2) is a rare monogenic genetic disorder with an autosomal recessive pattern of inheritance. The disease is caused by mutations in the GRHPR gene encoding the glyoxylate/hydroxypyruvate reductase enzyme [2,12]. The high urinary excretion of oxalate and L-glycerate is a characteristic biochemical feature of PH2. Pathologically, the increased plasma and urinary oxal...

The diagnosis of primary hyperoxaluria in young children is hampered by the lack of a reliable reference range for urinary oxalate excretion, especially in infants. We present data on urinary oxalate and glycolate excretion in 137 normal children, on the plasma oxalate concentration in 33 normal children and 53 with chronic renal failure, and on amniotic fluid oxalate concentration in 63 uncomp...

Corresponding Author: Emre Yalcinkaya, MD; e-mail: [email protected] 3545 Dear Editor, We read the article by Nucci, et al1 entitled “The role of 3D and speckle tracking echocardiography in cardiac amyloidosis: a case report,” which is recently published in European Review for Medical and Pharmacological Sciences. The authors1 presented a patient with cardiac amyloidosis, and the diagn...

Dear Editor, I read with interest the recent contribution by Biniaz and colleagues,1 which reported the existence of a significant relationship between vitamin C supplementation and serum uric acid (SUA) levels in hemodialysis patients and found that SUA levels were higher in half of these patients. Hyperuricemia is associated with hypertension and chronic kidney disease. Large epidemiological ...

PURPOSE OF REVIEW To provide transplant physicians with a summary of the pathogenesis and diagnosis of adenine phosphoribosyl transferase (APRT) deficiency and primary hyperoxaluria and, focussed on kidney transplantation, and to discuss interventions aimed at preventing and treating the recurrence of crystalline nephropathy in renal transplant recipients. SOURCE OF INFORMATION Pubmed literat...