[Uremic encephalopathy in regular dialysis treatment: uremic stroke?]. / Encefalopatia uremica in paziente in trattamento emodialitico cronico: stroke uremico? Descrizione di un caso clinico.

This case report a 59 years-old male in regular dialysis treatment with neurologic emergency characterized by neurologic signs as deep sopor the cause of which was uremic encephalopathy. At presentation, laboratory investigations revealed creatinine 12,75 mg/dl, BUN 174 mg/% and hyperkalemia 7,5 mq/L. The most common abnormal test results were EEG and ECG. CT brain showed no evidence of hemorrhagic areas or hematoma subdural. The patient was treated with hemodialysis and after the first hour of hemodialysis, laboratory control revealed hypokaliemia with metabolic acidosis due to arteiovenous fistula recirculation. After placement of jugular venous hemodialysis catheter and intensive treatment, the patient showed gradual improvement of uremic stroke due to arteriovenous fistula recirculation for high grade venous stenoses. Arteriovenous fistula dysfunction remains a major contributor to the morbidity and mortality of hemodialysis patients. The failure of a newly created AVF to mature and to develop stenosis in an estabilished AVF are two common clinical predicaments. The goal is to identify a dysfunctional AVF early enough to intervene in a timely manner, either to assist the maturation process or to prevent thrombosis. Most clinical features of neurologic complications in uremics are nonspecific and do not reliable, but it is important to identify specific causes such as vascular access recirculation for adequate treatment and regression of uremic stroke.

[Prevalence and control of hypertension in chronic hemodialysis patients: results of a single-centre clinical audit]. / Prevalenza e controllo dell'ipertensione arteriosa nei pazienti in trattamento emodialitico cronico: risultati di un audit clinico monocentrico.

Hypertension (HTN) is very common in chronic hemodialysis patients, with a prevalence of 72%, a very poor control and an annual mortality of 23%. We report the results of a clinical audit on prevalence and control of HTN in our hemodialysis patients. The following parameters in a cohort of 89 patients were assessed in one-month observational study, conducted in October 2010: blood pressure (BP) before the beginning (preHD BP) and after the end of the treatment (postHD BP), age, sex, comorbidity, serum hemoglobin (Hb) levels, plasma and dialysate sodium levels, interdialytic weight gain (IWG), serum parathyroid hormone (PTH) levels, prescription of erythropoiesis stimulating agents (ESA) and of antihypertensive drugs. In agreeement to the current guidelines, patients with preHD BP ≤140/90 mmHg and postHD BP ≤130/80 mmHg were considered normortensive. Forty-nine patients (55%) were found to be hypertensive. The following comorbidities, graded as 1+ to 3+, were detected: ischemic/hypertrophic cardiopathy, dyslipidemia, peripheral arteriopathy, diabetes mellitus. Only 14.3% of patients achieved both preHD and postHD BP targets. Compared to patients whose BP was not controlled, those achieving BP targets were younger, had lower dialysate sodium levels and showed a greater IWG. No significant difference there was in serum Hb levels, plasma sodium levels, serum PTH levels, prescription of antihypertensive drugs and ESA. Our data confirm the high prevalence of HTN and the unsatisfactory BP control in hemodialysis patients. A low-salt diet, probing for dry-weight and the antihypertensive medication may help to achieve the BP control.

Lipofuscin-like granules of the juxtaglomerular apparatus of the kidney. The diagnostic significance of a quasi-normal subcellular structure incidentally encountered in the course of routine ultrastructural evaluation of renal biopsies.

Lipofuscin-like granules, first described by Biava and West in 1965, are a subcellular, quasi-physiologic finding mainly seen in the smooth muscle cells of renal arterioles, but also in juxtaglomerular cells and the lacis cells of human kidneys. They increase in number in subjects affected by arterial hypertension and diabetes. They do not correlate with a specific primary renal disease. Lipofuscin-like granules are not related to renin granules. The world literature on this subject is almost non-existent, and the awareness of this finding or its clinical significance among either pathologists or nephrologists is very poor. We incidentally observed these lipofuscin-like granules in 8 cases during the routine electron microscope examination of 440 renal biopsies, and report herein on their ultrastructural features. Six of these 8 patients were affected by arterial hypertension, one of whom was also concomitantly affected by diabetes mellitus. These lipofuscin-like granules appear as dense bodies with a lipid component, a coarsely granular matrix, and a crystalloid component which may appear in a band or dot pattern, according to the plane of sectioning. The pathologist has to be aware of these lipofuscin-like granules in order not to confuse them with the semicircularly organized (fingerprint) linear immune deposits associated with some specific glomerulopathies.

Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis.

BACKGROUND: Mutations in the NPHS2 gene, encoding podocin, and in the ACTN4 gene, encoding alpha-actinin-4, have been identified in familial childhood-onset forms of focal and segmental glomerulosclerosis (FSGS). NPHS2 may be also responsible for some sporadic cases. The role of NPHS2 and ACTN4 in the adult sporadic form of the disease is being clarifying. METHODS: Thirty-three adult subjects affected by sporadic FSGS were studied at molecular level. At biopsy, 12 patients had nephrotic syndrome, 5 patients had isolated proteinuria and 16 patients showed proteinuria and hematuria. Glomerular filtration rate (GFR) was in the normal range in 19 subjects and 14 patients had a variable degree of renal failure. Multiplex families presenting with a clear familial inheritance for proteinuria or other congenital nephrotic syndrome were excluded. The whole coding region, all intron/exon boundaries and flanking intronic regions of NPHS2 gene and the exon 8, i.e. hot-spot mutations of the ACTN4 gene, were analyzed in all patients by denaturing high-performance liquid chromatography (DHPLC) to search disease-causing defects. RESULTS: The analysis identified four already described and two new polymorphisms, IVS3-21C>T and IVS3-46C>T, on the NPHS2 gene. Moreover, the R229Q allele was identified in 3/33 patients and in 7/124 controls, accounting for an allelic frequency of 0.045 and 0.028, respectively. The new intronic polymorphism IVS7-54C>T was also found in the exon 8 of the ACTN4 gene. CONCLUSIONS: In this study, we exhaustively analyzed the NPHS2 and the exon 8 of the ACTN4 genes in a series of sporadic 'adult-onset' FSGS patients. No causative mutations were found while the R229Q allele was identified in 3 patients confirming its possible role as a 'disease-associated NPHS2 allele' although its pathogenetic involvement needs to be further clarified. Moreover, the description of new intronic polymorphisms in both genes is reported.