[HELLP syndrome and hemolytic uremic syndrome during pregnancy: two disease entities, same causation. Case report and literature review].

Thrombotic microangiopathies (TMA) are a group of diseases that can complicate pregnancy and threaten the lives of both the mother and the fetus. Several conditions can lead to TMA, including thrombotic thrombocytopenic purpura (TTP), HELLP syndrome and hemolytic uremic syndrome (HUS). We describe the case of a 39-year-old woman who presented a HELLP syndrome in the immediate postpartum period. The patient had acute kidney injury (AKI), increased LDH, unmeasurable haptoglobin levels and hypocomplementemia. Her ADAMTS13 value was normal, thus ruling out TTP. Shiga toxin tests were negative, so HUS associated with E. coli was also ruled out. HELLP syndrome and atypical hemolytic-uremic syndrome (aHUS) remained the most probable diagnosis. In the days following childbirth, the patient's transaminase and bilirubin levels normalized while the anemia persisted, as did the AKI, resulting in the institution of dialysis treatment. A diagnosis of aHUS was made and therapy with eculizumab was started. The patient's blood counts progressively improved, urine output was restored, her indices of renal function also concomitantly improved and dialysis was interrupted. A rash appeared after the third administration of eculizumab and the treatment was suspended. The patient is currently being followed up and has not relapsed. At thirteen months after delivery her renal function is normal as are her platelet counts, LDH, haptoglobin levels and proteinuria. Tests for mutations in the genes that regulate complement activity were negative. We believe that childbirth triggered the HELLP syndrome, which in turn brought about and sustained the HUS. In fact, the patient's liver function improved right after delivery, while her kidney injury and hemolysis persisted, and she also had an excellent response to eculizumab. To our knowledge, no other cases of HELLP syndrome associated with haemolytic uremic syndrome during pregnancy have been reported in literature, nor have cases in which treatment with eculizumab was limited to only three administrations.

[Brachial artery pseudoaneurysm: a rare but serious complication in hemodialysis patients with arteriovenous fistula].

A pseudoaneurysm or false aneurysm of the brachial artery is an uncommon occurrence in patients receiving hemodialysis with arteriovenous fistula (AVF). We describe the case of a 76-year-old woman presenting with a large, tender, pulsatile mass in the right antecubital region 10 cm from the AVF. B-mode ultrasound examination revealed a saccular hematoma. Color doppler showed a recirculation movement of blood, creating a two colors image called "Korean flag". The patient was transferred to the surgical unit where she first underwent ultrasound-guided compression and then surgical repair of the pseudoaneurysm. Two weeks after surgery the AVF was used again as an access for hemodialysis. Differentiating between a false and a true aneurysm based on ultrasound is not always straightforward. Doppler ultrasound findings can be decisive for the early diagnosis of a pseudoaneurysm to ensure proper treatment planning given the dangerous complications of ruptures. Treatment options include: compression, percutaneous thrombin injection, endovascular exclusion with covered stents, aneurysmectomy and surgical repair.

[Analysis of clinical Risk and adoption of shared procedures: experience of nephrology and dialysis unit of ASL BA]. / Dall'analisi del rischio clinico all'adozione di procedure condivise: esperienza della s.c. di nefrologia e dialisi della ASL BA.

Currently, English scientific literature is lacking in studies showing that medical assistance may be delivered without errors. Since two years ago, the department of nephrology and urology of ASL BA has been establishing a process of clinical risk management.Starting with the reporting of a single error, a related database was subsequently developed, in order to validate technical and organizational procedures that would be of common use in the daily clinical practice.With regard to error reporting, the system of incident reporting was adopted: that is a structured collection of significant events for the safety of patients with a specific form for reporting to be filled out by health professionals. Reports have been collected, coded and analysed. Finally measures were adopted to reduce the recurrence of the error.This first phase consisted on writing the procedures in order to create structured diagnostic-therapeutic protocols. In 18 months of observation adopting the incident reporting form, 48 errors have been reported: 52% due to adverse events; 12.5% to adverse reactions; 31.2% near misses and 2% to sentinel events. In 35.4 % of cases the error occurred in the administration or prescription of drug therapies, in 18.7% of cases it occurred in the organizational stage, in 12.5% it was a surgical error, in 18.7% of cases the error was due to incorrect asepsis, in 8.3% of cases it occurred during the medical examination and finally in 8.3% during dialysis. An analysis of the error database resulted in the choice of more urgent procedures. It is our view that only the observation of procedures can ensure the achievement of a high quality with improved clinical outcomes, reduction of complications, elimination of inappropriate interventions and increased patient satisfaction.

[A rare case of acute renal failure related to amanita proxima ingestion]. / Nefropatia tubulo-interstiziale acuta da amanita proxima.

OBJECTIVE: The first cases of acute renal tubulopathy related to Amanita proxima poisoning were described in 1994; the mushroom contains a toxin responsible for the allenic-norleucine syndrome, characterised by a kidney damage that occur earlier than in Cortinarius orellanus poisoning and generally improve with complete resolution within ten days. CASE REPORT: A 45 years old woman was admitted to the hospital because of nausea, vomiting, and heartburn started the day before. Symptoms occurred eight hours after eating a single big wild mushroom; three friends who had the same meal were all asymptomatic. Twelve hours after the admission the woman became anuric and blood tests showed an impaired renal function: creatinine 13 mg/dL urea 240 mg/dL, AST 240 U / L, ALT 350 U / l. The patient was transferred to the nephrology unit of the Hospital Di Venere of Bari and the PCC of Milan was consulted. The toxicologist supposed a nephrotoxic syndrome caused by the consumption of Amanita proxima and sent a picture of the mushroom ingested to a mycologist who identified the specie as Amanita proxima Dumé, Bull (typical volva reddish-orange, ivory white hat, scaly stalk) sometimes mistaken for Amanita ovoidea. Haemodialysis was performed for five days followed by supportive care. Urine output gradually increased, serum creatinine decreased and Ast - Alt normalized. CONCLUSIONS: Amanita proxima contains an allenic-norleucine toxin (different from orellanine for the absence of inhibition of alkaline phosphatase), responsible for the reversible kidney damage, characterised by tubulointerstitial nephritis with acute tubular necrosis and renal failure. Occurrence and seriousness of symptoms seem to be variable and dependent on the amount ingested.

[It's not always a cyst]. / Non sempre cisti: fistola arterovenosa intrarenale.

Congenital arteriovenous renal fistulas are rare malformations due to abnormal communications between arterial and the venous systems. There are two types of congenital arteriovenous malformations: crisoid or, as in the present study, aneurysmal. Hematuria is the major and most common symptom, along with other clinical manifestations, such as hypertension, left ventricular hypertrophy, cardiac failure, and abdominal pain, but the congenital aneurysmatic arteriovenous renal fistulas can be also asymptomatic. Diagnosis can arise from a focused survey, suggested by a medical case or to be occasional, as in the present case of study. Ultrasonography with color duplex studies is the first line of imaging studies used in the diagnosis of renal arteriovenous malformations, The differential diagnosis must be made with other anechoic lesion: abscesses, tumors, hydronephrosis or, as in this case, a renal cyst. Angiography is the gold standard in the diagnosis of arteriovenous malformations, especially in those cases where the diagnostic -therapeutic treatment requires the endovascular treatment of the vessel, as in the case of a 46 years old man submitted in our clinic to the ultrasonography follow-up for a renal cyst.

[Guiding the patient with end-stage renal disease in the choice of replacement therapy: role of the predialysis outpatient department]. / L'orientamento del paziente uremico nella scelta del trattamento sostitutivo: ruolo dell'ambulatorio di predialisi.

The predialysis outpatient department has three main objectives: ensuring patients' conscious and informed choice of dialysis treatment; clinical followup of patients with stage IV-V kidney disease; supporting patients and their families in their treatment choice. The aim of this work is to evaluate a) the effectiveness of the predialysis outpatient department in informing patients about the problems inherent in their disease; b) the differences in the choice of dialysis treatment between patients who benefited from the predialysis program and those who did not have that opportunity. Ninety-six patients were included in the study: 77 started renal replacement therapy after following a program at the predialysis outpatient department, while the remaining 19 patients started dialysis in an unplanned way. The patients monitored during predialysis were given a questionnaire to evaluate the usefulness of the followed program. The 77 patients who attended the predialysis outpatient department proved to be equally divided between hemodialysis and peritoneal dialysis: 43% vs 57%; the other 19 patients were directed mainly towards hemodialysis: 86% vs 14%, respectively. Analysis of the questionnaires showed that patients expressed a good degree of satisfaction. The results pointed to the usefulness of creating a predialysis outpatient department that should be able to a) optimize the predialytic treatments; b) plan the preparation of vascular or peritoneal access; c) guarantee patients a conscious choice of their replacement therapy.

[Uremic pneumonitis: a case report]. / Il polmone uremico: case report.

Although lung involvement is frequent in patients with renal failure, cases of uremic pneumonitis have become less and less frequent since the introduction of dialysis. We describe the clinical case of a man who had respiratory distress and severe renal impairment when he first came to our observation. Instrumental and laboratory tests resulted in a diagnosis of advanced chronic renal failure together with extensive bronchopneumonia, while further tests revealed more severe lung involvement. After excluding the immunological pathogenesis forms involving the kidneys and lungs, our new diagnosis was uremic pneumonitis complicated by bronchopneumonia. The diagnosis was supported by the tomographic picture of the lung and the severe state of uremic poisoning, as well as an ex juvantibus criterion: intensive dialytic treatment together with broad-spectrum antibiotic therapy resulted in progressive improvement of the clinical picture with concurrent regression of the radiological lesions in the lung.

Prognosis of CKD patients receiving outpatient nephrology care in Italy.

BACKGROUND AND OBJECTIVES: Prognosis in nondialysis chronic kidney disease (CKD) patients under regular nephrology care is rarely investigated. Design, setting, participants, & measurements We prospectively followed from 2003 to death or June 2010 a cohort of 1248 patients with CKD stages 3 to 5 and previous nephrology care ≥1 year in 25 Italian outpatient nephrology clinics. Cumulative incidence of ESRD or death before ESRD were estimated using the competing-risk approach. RESULTS: Estimated rates (per 100 patient-years) of ESRD and death 8.3 (95% confidence interval [CI], 7.4 to 9.2) and 5.9 (95% CI 5.2 to 6.6), respectively. Risk of ESRD and death increased progressively from stages 3 to 5. ESRD was more frequent than death in stage 4 and 5 CKD, whereas the opposite was true in stage 3 CKD. Younger age, lower body mass index, proteinuria, and high phosphate predicted ESRD, whereas older age, diabetes, previous cardiovascular disease, ESRD, proteinuria, high uric acid, and anemia predicted death (P < 0.05 for all). Among modifiable risk factors, proteinuria accounted for the greatest contribution to the model fit for either outcome. CONCLUSIONS: In patients receiving continuity of care in Italian nephrology clinics, ESRD was a more frequent outcome than death in stage 4 and 5 CKD, but the opposite was true in stage 3. Outcomes were predicted by modifiable risk factors specific to CKD. Proteinuria used in conjunction with estimated GFR refined risk stratification. These findings provide information, specific to CKD patients under regular outpatient nephrology care, for risk stratification that complement recent observations in the general population.

Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA).

Fabry disease is an under-recognized X-linked lysosomal disorder, due to alpha-galactosidase A deficiency. Most of the mutations in the GLA gene are detectable using genomic sequencing analysis. However, deletions of one or more exons or deletion encompassing the entire gene are undetectable, especially in heterozygous females. The Multiplex Ligation-dependent Probe Amplification (MLPA) is an efficient tool for discovering these rearrangements. In this study two novel different deletions were detected using MLPA assay on two Fabry patients, both resulted mutation negative by sequencing analysis. These data suggest that this screening should be systematically included in genetic testing surveys of patients with Fabry disease.