[Hereditary renal hypouricemia in a Caucasian patient: a case report and review of the literature]. / Hypo-uricémie rénale héréditaire chez un sujet d'origine caucasienne : présentation d'un cas clinique et revue de la littérature.

Hereditary renal hypouricemia is characterized by a decreased serum uric acid, a uric acid fractional excretion above normal and the absence of another cause of hyperuricosuric hypouricemia. This pathology, generally caused by a mutation of urate renal transporter URAT1, is relatively common in Asia, but occurs very infrequently in Caucasian populations. The disease's association with exercise-induced acute renal failure is well known. This article reports the case of a 47-year-old man of Italian origin who was diagnosed with hereditary renal hypouricemia after an episode of exercise-induced acute renal failure. Molecular analysis of SLC22A12 encoding URAT1 for renal hypouricemia using peripheral blood genomic DNA of the patient was performed. Single-strand conformation polymorphism screening, amplification, and direct sequencing of SLC22A12 revealed no mutation in this patient. This suggests that another gene can be involved in this disease.

Predictors and outcome of cardiopulmonary resuscitation (CPR) calls in a large haemodialysis unit over a seven-year period.

BACKGROUND: Cardiac mortality is the leading cause of death in dialysis patients, with cardiac arrests being most frequent. Our purpose was to determine the epidemiology, predictors and outcomes of calls for cardiopulmonary resuscitation (CPR) occurring in our haemodialysis unit. METHODS: We reviewed retrospectively all calls for CPR occurring in our unit between August 1997 and December 2004 and compared data to a cohort of chronic haemodialysis patients from our unit. Dialysis sessions performed in the ICUs were not included. RESULTS: A total of 38 calls occurred over 307,553 sessions, corresponding to an incidence of 0.012%. In a multivariate logistic regression model, statistically significant predictors to have a call for CPR were ischaemic heart disease (OR: 3.93; 95% CI: 1.70-9.07), heart failure (OR: 2.74; 95% CI: 1.12-6.74) and female gender (OR: 2.96; 95% CI: 1.37-6.43). Patients who had a call for CPR had a lower dialysis vintage than control patients (OR: 0.98; 95% CI: 0.965-0.996). Twenty of the 38 events presented on Mondays or Tuesdays (P = 0.012); 78% occurred during haemodialysis, vs 14 and 8% immediately after and immediately before dialysis but still on the unit, respectively. Of the 38 events, 24 were true cardiopulmonary arrests. Cardiac etiology was the most frequent (34%) and only 4 events were attributed to potassium disorders. One quarter of patients were dialyzed against a dialysate potassium concentration of 1 mmol/l or below. An arrhythmia was identified in 19 patients; a malignant ventricular fibrillation or ventricular tachycardia was most frequently found (32%), followed by severe bradycardia (26%). For the whole group, there were 6 deaths (16%) within 48 h; 30 patients (79%) were alive at 30 days and discharged from the hospital. Among the 24 cardiopulmonary arrests, there were 4 deaths (17%) within 48 h; 18 patients (75%) were alive at 30 days and discharged from the hospital. There was a trend for worse prognosis at 60 days when related to cardiopulmonary etiology (P = 0.054) and when a true cardiopulmonary arrest occurred (P = 0.134). CONCLUSIONS: This study confirms that arrest codes occur more frequently on Mondays and Tuesdays in a haemodialysis unit. Survival after an arrest code appears to be better than in certain other circumstances, probably in part because of the presence of witness, physician and equipment, and vascular access being readily available.

Hemodialysis catheter tip embolization in the right pulmonary vasculature: report of a cardiac arrest.

A 44 year old woman on hemodialysis presented a sudden cardiorespiratory arrest at the end of an otherwise uneventful dialysis session. It occurred while disconnecting the circuit from her tunneled catheter. She was reanimated and then transferred to the intensive care unit; the endotracheal intubation had been difficult, and she had been severely hypoxic. It was noted that the external venous clamp of the tunneled catheter was broken and the hypothesis of a break during the reanimation process was entertained. The routine chest x-ray postintubation showed that the tip of the catheter was ruptured and visible in one branch of the right pulmonary artery. The catheter was changed over a guide wire, and the broken catheter was sent for analysis to the manufacturer. A selective angiography of the right pulmonary artery was performed with the purpose of removing the fractured catheter tip but was unsuccessful. The patient recovered neurologic function slowly over the next 4 months. The exact etiology of the arrest remains incompletely understood; it is unknown whether it was caused by the catheter tip embolization or if an air embolism occurred.