[Psychosocial adaptation in adolescents with chronic kidney disease]. / L'adattamento psico-sociale nell'adolescente con nefropatia cronica.

BACKGROUND: Chronic disease represents a very critical experience for personal identity. This is far more true in adolescence when corporeal, emotional, relational and cognitive changes are taking place. The aim of the present study is to draw attention to the social and emotional balance and the psychosocial adaptation in a group of nephropathic adolescents and to formulate a suitable assistance program. METHODS: We studied two adolescent groups, one group of nephropathics and one group of healthy individuals, by administering the MMPI (Minnesota Multiphasic Personality Inventory) personality test. RESULTS: We found significant differences between the mean score of the two groups in the clinical scale for depression, hypochondria and hysteria (p < 0.5); in addition, we observed a statistically significant difference in the emotional balance indicators. CONCLUSIONS: Our experience suggests that nephropathic adolescents require global awareness of their psychological problems through the use of innovative assistance methods. A new strategy involving a more modern approach (i.e., educational camps) and specific psychosocial rehabilitation programs should be introduced to improve the quality of life.

[Clinical evaluation of the Paired Filtration Dialysis in children]. / Valutazione clinica della Paired Filtration Dialysis nel bambino.

PURPOSE: An important challenge for a pediatric nephrologist is to achieve in children the innovations of current adult dialytic technology. METHODS: Five children, mean age 14.1 +/- 1.5 yrs, mean weight 31.5 +/- 5.8 kg, mean dialytic age 32 +/- 20 months, were evaluated after a 6-month treatment with paired filtration dialysis (PFD). We used two capillary membranes: a 0.4 m 2 polysulfone hemofilter and a 0.8 m 2 cuprophan dialyzer. There was a reinfusion system (1540 +/- 150 mL/h) between these two filters. QD 500 mL/min and QB 230 +/- 10 mL/min. Ultrafiltration (UF) 2400 mL/h was planned for the hemofilter. At base-line and after 6 months of treatment, in addition, we evaluated routine clinical parameters, and other parameters such as beta2-microglobulin, dialytic adequacy (Kt/V) and nutritional status (dietetic diary). The data were analyzed using the Student's t-test for paired values. RESULTS: Medium values of small molecules did not demonstrate meaningful variations after 6 months of treatment. The extraction percentage after each session was between 63% phosphorous and 76% for urea, but only 25% for convection. Instantaneous urea clearance after 60 min was 178 +/- 10 mL/min. Dialytic efficiency and nutritional intake were appropriated: Kt/V 1.66 +/- 0.2; PCRn 1.65 +/- 0.2; protein intake 2.2 +/- 0.5 g/kg/die; caloric balance 71.2 +/- 15 Kcal/kg/die; protein balance 0.53 +/- 0.4 g/kg/die; and azotic balance 85.8 +/- 74 mg/kg/die. We confirmed the good depuration capacity from the middle molecules with convective treatments: beta2-microglobulin extraction was 53%. Moreover, in children we found good clinical tolerance to PFD with modest interdialytic symptomatology: headache (8%), hypotension (6%), and cramps and vomiting (<2%). Increased priming of the extracorporeal circuit was not a significant technical problem. The cuprophan membrane has been subsequently replaced with the polysulfone membrane. CONCLUSIONS: We can assert that this technique can also be performed in the pediatric age with similar results as in the adult age: good depuration of the small and averages molecules, good clinical tolerance, and shortening the dialytic sessions.

Therapeutic apheresis in children: experience in a pediatric dialysis center.

The use of apheretic procedures in pediatric patients has always been restricted by technical difficulties and the low incidence of diseases requiring this kind of treatment. The aim of the present study was to describe the solutions adopted to solve technical difficulties related to priming, vascular access and monitoring and then to evaluate clinical results. Between 1982 and 2000, 51 consecutive children (28 male, 23 female) with a mean age of 4.9 +/- 4.8 years (3 months-14.8 years) and a mean weight of 19.7 +/- 12.8 kg (5-52 kg), with renal and/or extra-renal diseases requiring apheretic procedures were selected for the study. The overall number of procedures performed were: 226 plasma-exchange (PE), 6 LDL-apheresis (LDL-A) and 8 protein A immunoadsorption (IAPA) sessions. Our therapeutic protocol involves hematic flux of 20-100 ml/min and ultrafiltration of 5-20 ml/min. In each 70-95 minute session we exchanged plasmatic volume with fresh frozen plasma or with a solution of 6% albumin in lactated Ringer's, using heparin (10-20 UI/kg/h). We used Paired Filtration Dialysis Monitor in PE and LDL-A; Citem 10 in IAPA. As plasma separator, we used a filter made of polypropylene, 0.2 m2 surface, 30 ml priming (Hemaplex BT 900). Hemolytic uremic syndrome was the most commonly treated disease (18/51 cases) with good results in 10/18 cases. We recorded, good results in vasculitis as well, in one girl with focal glomerulosclerosis in transplanted kidney and rapid improvement in all children with Guillaine-Barré Syndrome. PE treatment was effective in metabolic disorders such as tirosynemia and familiar hypercholesterolemia. Only 4/12 patients with acute liver failure due to viral hepatitis recovered. We had poor results in the remaining eight cases. Complications were rare and no viral infection was found in any patient. Our data show that it is possible to use these procedures in pediatric patients even though clinical indications and real effectiveness still need to be cleared up.

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.

Tapeto-retinal degeneration is frequent in patients with nephronophthisis. Association of the most severe forms of tapeto-retinal dystrophy with NPH identifies a syndrome described first by Senior et al and Loken et al. This syndrome is distinct on molecular grounds from pure renal nephronophthisis (NPH1), which has its gene locus mapped on chromosome 2q13. We describe three families with large homozygous deletion of the NPH1 locus in which mild to moderate ocular lesions due to tapeto-retinal degeneration coexisted and were correlated to renal defects. This new association of NPH1 with retinal dystrophy is characterized by focal lesions of retina and is pauci-symptomatic in clinical presentation. For this reason it may remain unrecognized in most NPH1 patients.

[Radio-surgical-histological procedure in the diagnosis and management of non-palpable breast lesions, suspected from mammography: experience of "Casa Sollievo della Sofferenza" Hospital in San Giovanni Rotondo]. / La procedura radio-chirurgico-istologica nella individuazione e diagnosi delle lesioni impalpabili della mammella, sospette alla mammografia: l'esperienza dell'Ospedale "Casa Sollievo della Sofferenza" di San Giovanni Rotondo.

The almost 4-year long experience of the IRCCS--"Casa Sollievo della Sofferenza" hospital (FG, Italy) dealing with 165 nonpalpable breast lesions mammographically detected is herein presented. According to a protocol based on the previously as well as relatively recent described guidelines for the clinico-pathological management of such lesions, the authors underline the necessity of a strict cooperation between the radiologist, the surgeon and the pathologist. They also emphasize the perspectives derived from such a new impact, among which the most impressive is the handling and sampling of this relatively new type of material with lesions which only rarely are grossly palpable ("pseudononpalpable lesions"), whilst often they are truly non palpable being of minute sizes ("microlesions") and even grossly "invisible" ("quasi-normal fibrofatty tissue"). Of note as consequences derived from the strict adherence to this type of protocol which anyone should adhere to there are also a decrease of frozen section diagnoses, a global increase in the surgical pathology lab workload, the ban for taking away any tissue from the lesion or from the area of concern for special studies, the technical approach to the identification of microcalcifications when they are present, the new questions & answers concerning with the completeness and the adequacy of excision, the state of surgical margins of the excised specimens, and the possible existence of residual in situ or infiltrating disease. The results herein presented area in consonance with those from other institutions so confirming the high incidence both of borderline lesions and in situ malignancies (overall incidence around 28%) and of the early and minute invasive cancers (44%) usually of favourable histological types, among truly nonpalpable breast lesions.

Chlorine dioxide: a new agent for dialysis monitor disinfection in a pediatric center.

In order to evaluate the bacterial and endotoxin contamination in the dialysis fluids of our pediatric center and the effectiveness of chlorine dioxide (CD) compared with a conventional method, (1) deionized water, (2) dialysate fluid, (3) basic concentrate, and (4) acid concentrate were tested in 4 dialysis machines. Monitor sterilization was made using CD in protocol A and sodium hypochlorite/acetic acid in protocol B. Once every 2 weeks the deionized water set of distribution was routinely disinfected with peracetic acid. Each protocol lasted 1 months and the samples were taken, under aseptic conditions, on the 15th, 22nd and 27th day. All samples, at all stages of the study, showed an endotoxin concentration below the limits recommended by the Canadian Standard Association. Fifty-nine out of 72 samples in A and 62 out of 72 samples in B showed a bacterial count within the range recommended by the Association for the Advancement of Medical Instrumentation. The data show that both protocols produced the same results. However, protocol A is to be preferred for its simultaneous disinfecting-cleaning and descaling activity which proves time-saving.

[Echographic diagnosis of nephro-urological neoplasia in a pediatric nephrology center]. / Diagnosi ecografica di neoplasie nefro-urologiche in un centro di nefrologia pediatrica.

The use of ultrasound for the diagnosis of urologic neoplasms in simple and accurate. Nowadays nephrologists and urologists advocate the use of ultrasound and the procedure now plays a complementary role of the clinical examination. We present a retrospective study regarding our experience with ultrasonography in the diagnosis of urologic problems. In the period february 95-february 96 we performed 672 ultrasound examination on children ranging in age from 30 days to 16 years. All examinations were performed using a 3.5-5 MHz real time convex scanner. The patients were examined in the supine position for imaging of the bladder and in the prone position for imaging of the kidneys. We report 3 cases of neoplasm of the genito-urinary tract screened with the use of ultrasounds in a selected paediatric population.

Biliary malformation with renal tubular insufficiency in two male infants: third family report.

We report two male sibs, born to non-consanguineous healthy parents, who showed arthrogryposis, cholestatic jaundice and tubular renal insufficiency. The liver biopsy of the first case showed scanty hypoplastic biliary ducts. This association, first reported by Lutz and Richner in 1973, is a distinct syndrome, characterized by intra-extrahepatic biliary hypoplasia, and described in McKusick's catalogue under the number 210550. All reported cases were males and consanguinity was found in two families. For these reasons, the possibility of an autosomal recessive or of an X-linked transmission should be considered. A similar association, in reports by Nezelof, Di Rocco, and Saraiva, without intra-extrahepatic atresia but with a cholestatic pigmentary liver disease was considered as another condition (no. 301820) by McKusick in 1992.