[Daily short dialysis. First results in a group of patients in home dialysis training]. / Dialisi quotidiana breve. Prime conferme in un gruppo di pazienti in training domiciliare.

The preliminary data of a small group of voluntary patients in daily short dialysis according to Buoncristiani are reported. After only one month of therapy an increase of haemoglobin and of haematocrit was obtained so that it was possible to reduce the EPO dose. The arterial pressure was better controlled with a smaller dose of antihypertensive drugs, facilitated in one case by a marked reduction of the body weight. The improvement in well-being and libido has been better than expected. The good results achieved encourage to go on with this experience, reported in the literature as an advantageous method both from the theoretic and clinical point of view, despite some difficulties that have still to be minimised.

[Conservative treatment of renal ptosis]. / Terapia conservativa della ptosi renale.

BACKGROUND: Nephroptosis or floating kidney is an acquired, caudal displacement of one or both kidneys, with differing stages and etiology. It has been almost completely ignored over the past few years. The general tendency to regard nephroptosis as a urological pathology has prompted researchers to look for resolutive surgical treatment. The existence of over 150 surgical techniques is a clear demonstration of the high failure rate with the result that surgeons are unwilling to tackle this pathology, often leaving the patient alone with his problems. The numerous nephrological complications caused by nephroptosis have prompted us to look for alternative therapies to propose to nephrologists for the consecutive treatment of the floating kidney, enabling the patient to live with his pathology. METHODS: A longitudinal study was performed for 60 months in 102 patients with mono or bilateral nephroptosis. Hematuria, urinary cylindroids, asthenia, pain and the daily intake of antispastic lenitives were analysed at 6, 12, 24 and 60 months. Throughout this period all patients were treated with a water cure (31/day) and nocturnal decubitus in Trendelenburg's position (the foot of the bed is raised by 10 cm). Patients with primary or secondary kidney pathology, UTI and nephrolithiasis were excluded from the study. RESULTS: All the parameters showed a marked and steady improvement. At one year, over half the patients treated had improved, and at two years over two thirds only complained of marginal symptoms. CONCLUSIONS: Quali-quantitative and temporal values are reported in the light of which we can affirm that conservative treatment enables the patient to lead an almost normal life, as well as returning to work, with a reduced risk of complications.

[Renal ptosis. Results of a national survey]. / Ptosi renale. Risultati di un questionario nazionale.

BACKGROUND: Renal ptosis is the caudal acquired displacement of one or both of the kidneys, with different degree and etiology, considered as a urological pathology because of its urodynamic changes and, in the last years, almost completely neglected. METHODS: The aim of the work is to research a parenchymal involvement, through a close examination of our outpatient's record; compared with data from the literature on renal ptosis and with the results of a national questionnaire to specialists. RESULTS: The literature reports a largest incidence in females; in our cases, instead, the incidence is nearly the same. The 2nd degree ptosis is the most frequent, but, in females, bilateral ptosis is prevalent (77%). We agree with the literature about urinary symptoms; actually, the most of the patients shows urinary colics or lumbar pain. We also noticed UTI (62%), urinary lithiasis (26%) and pyelocalyceal ectasia (46%). A lot of patients suffer from microscopic hematuria (77%) and, in 12%, gross haematuria was noticed. Hypertension affects about an half of the patients (46%) and the proteinuria too (42%). Echography highlights a reduced cortex (12%), cysts (14%) and other changes (8%). GFR is decreased in 30% of cases, in different degree. The patients show different changes, according to their age. The results of the national questionnaire are also reported. CONCLUSIONS: In conclusion, considering the remarkable incidence and anatomical and functional changes, it is suggested to consider renal ptosis as a cause of chronic renal damage, also because it is included among the causes of obstructive nephropathy, which according to some researchers, can cause severe glomerular and tubular-interstitial changes, triggered off by a short urinary stasis and evident in the contralateral kidney too.

[High-flux arteriovenous fistula at the anatomic snuffbox]. / Fistola artero-venosa ad alta portata alla tabacchiera anatomica.

Based on 25 years of haemodialysis experience, the authors confirm the importance of arteriovenous fistula at the anatomic snuff-box by L-L anastomosis with vessel end-tie, and assert that, even using small vessels, through simple devices, it is possible to achieve high-flux vascular access, that can be employed also for high-efficiency treatments (HF, HDF). The advantages and the troubles of this vascular access are considered and also the reasons that lead to dropping this arterio-venous fistula too. The authors describe the surgical technique and the devices of the procedure, based on their case-reports of 131 arteriovenous fistulas at the anatomic snuff-box, immediately working in 95% of the cases and compatible with high-flux blood in 67% of cases. Fine adventitial bridle resection is very important, because this procedure allows us to rest the venous vessel wall on the top of the fistula; the ligature of all collateral vessels is very important too. The arteriovenous fistula at the anatomic snuff-box (L-L terminated, with anastomotic leak of 5 mm) is the most advisable vascular access for all the patients in whom we can plan the start of dialysis some months advance.

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene.

Sixty-seven Italian patients with autosomal dominant polycystic kidney disease (ADPKD) were screened for mutations in the 3' unique region of the PKD1 gene, using heteroduplex DNA analysis. Novel aberrant bands were detected in 3 patients from the same family. DNA sequencing showed a C to T transition in exon 44 (C12269T), resulting in a premature stop codon (R4020X), predicted to impair the synthesis of the putative intracytoplasmic C-terminus tail of the PKD1 protein, polycystin. The mutation also generates a novel DdeI restriction site, and the abnormal restriction pattern was observed both on genomic DNA and on cDNA from the affected relatives, indicating that this is indeed the pathogenetic molecular lesion. Reverse transcriptase-polymerase chain reaction (RT-PCR) performed on lymphocyte mRNA showed that the mutant transcript is normally present and stable. No aberrantly spliced mRNAs were detected. Interestingly, the mutant PKD1 chromosome in this family also bears two missense mutations downstream (A12341G and C12384T), not found in the other ADPKD families studied.

[Protozoan infection (Blastocystis hominis) concomitant with Pseudomonas sp. peritonitis in continuous ambulatory peritoneal dialysis (CAPD)]. / Infezione protozoaria (Blastocystis hominis) concomitante a peritonite da Pseudomanas sp. in corso di dialisi peritoneale ambulatoriale continua (CAPD).

Case-report of protozoal infection (Blastocystis bominis) during Pseudomonas peritonitis in male patient with intestinal diverticulosis on continuous ambulatory peritoneal dialysis (CAPD) treatment for chronic renal failure (CRF). Microscopic morphology and cultural characteristics are summarized from current literature. Photographic images in phase contrast from fresh-observation of faeces and peritoneal fluid are reported. Although other Protozoa (e.g. Acanthamoeba free-living) have already been found in dialysis fluid, this is the first case, referred in literature, of Blastocystis bominis infection in CAPD patients. Some pathogenetic hypothesis are done involving Blastocystis bominis in peritoneal infection, especially in immunodepressed patients like dialysed ones. Although many chemotherapeutics are provided for this protozoiasis during enteritis, in our case no supplement was required except specific antibiotic therapy for Pseudomonas infection. Symbion or pathogen? Is now-a-day the question which troubles parasitologists. Systemic research of Protozoa in dialysed patients is anyhow advisable.

Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease.

Sixty-seven Italian patients with autosomal dominant polycystic kidney disease (ADPKD) were screened for mutations in the PKD1 gene. We used PCR, heteroduplex and single-strand conformation polymorphism DNA analysis, and automated DNA sequencing for exons 35, 36, 38, 44 and 45. We detected abnormal heteroduplexes in affected individuals from two unrelated families with clinically severe ADPKD phenotype. These changes were absent in other, unaffected members, as well as in the probands of the other families studied. DNA sequencing revealed in both cases different C to T transitions in exon 44, which created premature stop codons. Both mutations altered restriction sites, and the abnormal patterns were observed in all the affected family members. RT-PCR performed on lymphocyte mRNA showed that both the mutant and the normal transcript are represented. To our knowledge these are the first nonsense mutations described in the PKD1 gene.

[Renal ptosis: nephrologic consequences of an organ malposition]. / Nefroptosi: consequenze nefrologiche di una malposizione d'organo.

Renal ptosis is the caudal acquired displacement of one or both of the kidneys, with different degree and etiology, considered as a urological pathology because of its urodynamic changes and, in the last years, almost completely neglected. The aim of the work is to research a parenchymal involvement, through a close examination of our outpatient record of cases, compared with data from the literature about renal ptosis. The literature reports the largest incidence in females; in our record of cases, instead, the incidence is nearly the same. Second degree ptosis is the most frequent, but, in females, bilateral ptosis is prevalent (77%). We agree with the literature about urinary symptoms; actually, the most of the patients shows urinary colics or lumbar pain. We also noticed UTI (62%), urinary lithiasis (26%) and pyelocalyceal ectasia (46%). A lot of patients suffer from microscopic haematuria (77%) and, in 12%, we noticed gross haematuria. Hypertension affects about half of the patients (46%) and proteinuria too (42%). Echography highlights a reduced cortex (12%), cysts (14%) and other changes (8%). GFR is decreased in 30% of cases, to a different degree. The patients show different changes, according to their age. In conclusion, considering that the incidence and the anatomic and functional changes are remarkable, we think it opportune to take renal ptosis into account as a cause of chronic renal damage, also because it is included among the causes of obstructive nephrophaty, which according to some researches, can cause severe glomerular and tubular-intestinal changes, triggered off by a short urinary stasis and evident in the controlateral kidney too.

[Utilization of an electronic archive in the organization of clinical data from patients at a dialysis center]. / Utilizzo di un archivio elettronico nella organizzazione dei dati clinici dei pazienti di un centro dialisi.

Today multiple programs allow storing of clinical data not yet satisfactory to practical management of nephrological patients. This work presents an electronic case history realized for nephrologic hospitalized or out patients, both in dialysis and in maintenance treatment, processed on a data-base (Fourth Dimension of Apple- Macintosh) which uses a "fourth generation" programming language and allows a personal or a multiple choice and a full data protection. As well as the personal or a multiple choice and a full data protection. As well as the storage of data about a single patient, the program allows an evaluation with correlations of data about all the patients. Fourth Dimension allows any sort of printing too, reports, accounts, cards, requests for tests, prescriptions and labels, with any kind of information coming from different files, which allows: a) to program pharmacological and dialytical treatments; b) to organize the employment of kidney machines according to the real needs and the availability; c) to balance weekly times, improving the working program; d) to plan prospects of expenses for the following year.

[Socio-occupational adjustment in patients undergoing dialysis in the Piedmont region. Preliminary data derived from our questionnaire]. / Recupero socio-lavorativo dei pazienti in dialisi nella Regione Piemonte. Dati preliminari elaborati da un nostro questionario.

All working-aged patients in Piedmont receiving dialysis treatment were asked to fill in a questionnaire which aimed to highlight socio-working adjustment by assessing not only the optimal nature of dialytic treatment but also its repercussions in psycho-affective, socio-economic and cultural terms. The results of the study are reported together with preliminary comments.