Hemolytic uremic syndrome and rhabdomyolysis in a patient with succinate coenzyme Q reductase (complex II) deficiency.

Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. Besides diarrhea-associated HUS, due to verotoxin-producing Escherichia coli, in children HUS without prodromal diarrhea may be associated with other infectious and autoimmune diseases, genetic defects of the complement-regulator alternative-pathway, and inborn errors of vitamin B12 metabolism. Rhabdomyolysis is the dissolution of skeletal muscle due to various causes, including inborn errors of metabolism. Recurrent rhabdomyolysis and HUS have been previously described in one patient with a genetic defect of oxidative phosphorylation. We report the case of a 2-year-old boy with recurrent HUS and rhabdomyolysis in whom a succinate coenzyme Q reductase (complex II) deficiency was diagnosed. We hypothesize that defects of oxidative phosphorylation could be another etiological factor in atypical HUS.

A multicenter survey on automated peritoneal dialysis prescription in children.

Automated peritoneal dialysis (APD) is considered the first-choice chronic peritoneal dialysis modality for pediatric patients. Nighttime APD courses reduce the impact of PD treatment on a patient's and family's way of life, and the wide range of prescription options permit the dialysis schedule to be tailored to the needs of children of varying age and body size. We registered data concerning the dialytic regimens adopted in 12 pediatric dialysis centers for the treatment of 110 children on APD. Of the 110 children, 64 (aged 7.6 +/- 5.1 years) were on nightly intermittent peritoneal dialysis (NIPD); 29 (aged 9.2 +/- 4.3 years) were on tidal peritoneal dialysis (TPD); and 17 (aged 8.2 +/- 4.9 years) were on continuous cycling peritoneal dialysis (CCPD). The main prescription parameters for the various regimens (mean +/- standard deviation) were these: NIPD--exchanges: 13.0 +/- 5.8; duration: 10.0 +/- 1.1 hours; dwell volume: 36.5 +/- 6.2 mL/kg body weight (BW); glucose concentration: 1.69% +/- 0.41%. TPD--exchanges: 23.3 +/- 8.1; duration: 10.0 +/- 1.0 hours; dwell volume: 36.1 +/- 5.9 mL/kg BW; glucose concentration: 1.63% +/- 0.37%. CCPD--exchanges: 13.0 +/- 4.7; duration: 10.1 +/- 1.3 hours; dwell volume: 37.7 +/- 5.2 mL/kg BW; glucose concentration: 1.65% +/- 0.28%. Tidal volume was 52.2% +/- 9.0% of initial fill volume. Daytime dwell volume was 54.8% +/- 17.3% of night volume in CCPD patients, and 56.6% +/- 13.3% in 9 patients on continuous TPD. Because the patient population in this report varied in age, body size, and metabolic needs, the resulting range in prescription parameters was quite wide. Nevertheless, the duration of nightly PD sessions averaged 10 hours, fill volume averaged 36 mL per kilogram body weight, and daytime volume averaged 50% of nighttime fill volume.

Efficacy of hemodiafiltration in a child with severe lactic acidosis due to thiamine deficiency.

We report the case of a child in whom severe lactic acidosis (LA) and hyperammonemia developed after twenty days of total parenteral nutrition (TPN) for diffuse esophageal damage due to caustic ingestion. The revision of TPN preparation revealed that thiamine was never included and the hypothesis of thiamine deficiency was later confirmed measuring the serum thiamine level. Because severe metabolic acidosis the dialytic treatment with hemodiafiltration (HDF) and bicarbonate infusion were performed: the patient very quickly recovered with dramatic reestablishment of the acid-basic balance. Thiamine administration restored lactate metabolism. We emphasize that HDF is a useful and prompt treatment for LA to get over the critical phase of neurological and cardiological damage.

[Acute gouty arthritis in adolescents with renal transplants]. / Artrite acuta gottosa in adolescenti con trapianto renale.

Hyperuricemia is a common metabolic abnormality in subjects with renal transplantation: in fact in transplanted adults receiving immunosuppressive and diuretic drugs the frequency of hyperuricemia varied from 30 to 84% according to treatment. Conversely, the gout is an uncommon eventuality, representing less than 10%; predisposing factors are impaired renal function and older age. In the younger patients with renal transplantation hyperuricemia is also frequent, but the gout doesn't considered a possible complication in paediatric age. We reported our observation of 5 patients (3 males and 2 females), 13-18 years old who developed gout 2-84 months after renal transplantation. All the patients were receiving cyclosporine, 4 even with prednisone and azathioprine. Two patients were treated with furosemide because hypertension. The average of uric acid serum levels in the post transplantation follow-up was 7 +/- 2 mg/dl; at the moment of gout attack the uric acid serum levels raised to 12 +/- 1 mg/dl. The arthritis diagnosis were made by clinical, laboratory and instrumental data (Rx and US). In the most severe cases, uricasi therapy resolved clinical picture. The analysis of immunosuppressive and diuretic treatment, renal function and dietary uses induces us to think that the gout episode may be the result of many concomitant factors, in adolescents with renal transplant.

Magnetic resonance imaging of renal osteodystrophy in children.

BACKGROUND: Improved life expectancy of children with chronic renal failure (CRF) has increased the number of patients with renal osteodystrophy and has brought to light novel and severe forms of the disease. These factors have contributed to the need to evaluate new, noninvasive imaging modalities for the detection of bone involvement. OBJECTIVES: To evaluate the potential of MRI in the detection of the bone changes of renal osteodystrophy as compared to conventional X-rays. MATERIALS AND METHODS: Fourteen children with CRF were examined with a 0.5-T MR unit using TI-weighted and STIR sequences and conventional radiographs. The following features were reviewed in a nonblinded study: skeletal deformities, thickening of cortical bone, trabecular pattern, intraosseous soft-tissue masses, osteonecrosis, extraskeletal calcifications and bone marrow signal changes. RESULTS: MRI adequately demonstrated skeletal deformities, cortical thickening and irregular trabecular pattern. It showed osteonecrosis and intraosseous soft-tissue masses more conspicuously than X-ray. In addition, it revealed diffuse nonspecific signal changes in the bone marrow. CONCLUSION: MRI is a potentially useful tool for evaluating the bone changes of renal osteodystrophy.

Comparison of patient hospitalization in chronic peritoneal dialysis and hemodialysis: a pediatric multicenter study.

Patient hospitalization was compared in 207 pediatric patients (age < or = 15 years at the start of dialysis) on chronic peritoneal dialysis (CPD) (127 patients) or center hemodialysis (HD) (80 patients), treated in 17 dialysis centers during the period 1989 to 1994, and followed up for at least three months. The hospitalization rate was expressed as hospital days per patient-month, and was calculated on the overall period of treatment and separately for the first and second year. Since the age at start of dialysis markedly differed between CPD (8.2 +/- 4.7 years) and HD (11.2 +/- 2.9 years) patients (with no HD patient younger than five years), results are separately presented in three patient groups: CPD patients aged < 5 years (A); CPD patients aged five to 15 years (B); HD patients (C). The duration of hospitalization was subdivided according to the following different causes: routine (monitoring of dialysis adequacy), complications of the modality, patient primary renal disease, and other causes. The results are presented in Table 1. A statistically significant difference in total days hospitalized was found between each of the two groups of CPD patients and the HD patients; the results for hospitalization for dialysis-related complications were higher in the group of younger children on CPD, while the difference between the two age-matched groups of patients on CPD and HD was not significant.

Progression of bone lesions in a child with primary hyperoxaluria type 1: evaluation by roentgenology and MRI.

We report the radiological and MRI findings of bone oxalosis and their rapid and extensive progression in a child with primary hyperoxaluria (PH) type 1. We emphasize the spectrum of skeletal changes and their differences from renal osteodystrophy and the role played by imaging in the diagnosis and follow-up of oxalosis.

[An echocardiographic study of the left ventricular functional indices in pediatric patients on hemodialysis and in treatment with recombinant human erythropoietin (r-HuEPO)]. / Studio ecocardiografico degli indici di funzione ventricolare sinistra in pazienti pediatrici emodializzati e in trattamento con eritropoietina umana ricombinante (r-HuEPO).

Recombinant human erythropoietin (r-HuEPO) is efficient in the treatment of anaemia in chronic renal failure on hemodialysis. We investigated the changes in cardiac function under r-HuEPO therapy using echocardiography. Seven patients with severe renal anaemia (Ht 19%) were treated with 50 U/kg r-HuEPO EV three times/week. Echocardiographic studies were performed in the anemic state and when hematocrit values were stable at levels (Ht 30%). Left ventricular function as showed by fractional shortening (D%) improved, the thickness of the interventricular septum and left ventricular hypertrophy were reduced. Our data indicate that the correction of renal anaemia by r-HuEPO can improve myocardial function in patients on maintenance hemodialysis.

A multicenter study on the hospitalization of pediatric patients on chronic peritoneal dialysis.

The Italian Registry of Pediatric Chronic Peritoneal Dialysis (CPD) carried out a special study on patient hospitalization during the years 1989-1992. Ninety-two children (mean age 8.4 +/- 4.7 years) entered the study, for a total of 1406 CPD-months. The contribution of the different causes of hospitalization for a total of 4683 hospital days was: CPD training 31%; routine controls 14%; CPD-related complications 35%; clinical complications 14%; other causes 6%. The rate of patient hospitalization that resulted was 3.33 days/CPD-month; it was higher in the first year (4.32 days/CPD-month) than in the second year (1.64 days/CPD-month) or in the third year (2.25 days/CPD-month). This difference was mainly due to the need for the training at the start of the CPD treatment. The evaluation of the hospitalization rate in different age groups showed a statistically significant difference (p < 0.05) between the group 0-2 years (5.47 days/CPD-month) and the group 3-15 years (2.78 days/CPD-month). Complications were the cause of 150 admissions to the hospital (1:9.6 CPD-months). Ninety-eight admissions were due to CPD-related complications: peritonitis (33%), problems with the catheter (19%), abdominal hernias (4%), and others (9%). Among clinical complications (52 admissions), the main cause of hospitalization was hypertension (15%), followed by infections (4%), and malnutrition (3%).

Chronic peritoneal dialysis in paediatrics: experience of a national registry.

The results of the first 3 years' collaboration of the Italian Registry of Paediatric Chronic Peritoneal Dialysis (CPD) (1986-1988) are presented. This Registry acquired data on the majority of the paediatric patients treated with CPD in Italy, thus providing a national picture in a field where few nationwide surveys are available. Patients of less than 15 years of age at the start of dialysis were enrolled and clinical data collected until the age of 19 years. The number of nephrological paediatric centres participating in the Registry increased from 7 in 1986 to 11 in 1988. The total number of patients on CPD was 70 and the percentage of dialysed children treated with CPD ranged from 40.2% to 43.6%. Data on 89 peritoneal catheters were collected: during 1417 dialysis-months 70 catheter-related complications were observed (1:20.8 dialysis-months); actuarial catheter survival was 92.7% at 6 months, 84.8% at 1 year and 68.8% at 2 years. the incidence of peritonitis changed from 1 episode every 10.9 patient-months in 1986 to 1 every 19.8 in 1988. Abdominal hernias were the other main clinical complication observed. The survival of patients was 92.5% at 3 years, while the technique survival at the same time was 84%.

Peritonitis in children undergoing chronic peritoneal dialysis (CPD): data from the Italian Registry of Pediatric CPD.

During the period 1986-1990, 119 patients were enrolled in the Italian Registry of Pediatric CPD. CAPD was largely predominant in the first 3 years, while CCPD accounted for 48% of dialysis months in the period 1989-1990. The connect-disconnect system was a Y set for all patients during the whole observation period. The incidence of peritonitis decreased from 1 episode: 10.9 patient-months in 1986 to 1:19.8 in 1988, and then passed to 1:16.2 in 1990. A comparison of the incidence of peritonitis between CAPD and CCPD, referring to the 1989-1990 period, showed no significant difference. The percentage of positive peritoneal fluid cultures changed from 48% in 1986 to 73% in 1990. Gram-positive bacteria, primarily Staphylococcus aureus and Staphylococcus epidermidis, accounted for most of the isolated organisms. Candida albicans was cultured in 3 cases both in 1986 and 1987. Exit site infection was the predominant (82%) complication, followed by leakage and catheter cuff extrusion. The hospitalization rate for peritonitis resulted persistently high (61% of episodes) and the mean duration was 12.7 days. Of the 8 patients who were switched to hemodialysis, 4 had recurrent peritonitis and 1 Candida albicans peritonitis.

[Influence of iron metabolism on the efficacy of r-HuEPO (recombinant human erythropoietin) treatment of anemia in children on hemodialysis]. / Influenza del metabolismo del ferro sull'efficacia del trattamento dell'anemia con r-HuEPO (recombined human erythropoietin) in pazienti embodializzati in età pediatrica.

Recombinant Human Erythropoietin (r-HuEPO) is efficient in the treatment of anaemia in terminal renal failure under dialysis. Five pediatric patients, who were under periodic hemodialysis, were treated and the interaction between the metabolism of iron and the response to r-HuEPO was studied in particular. In two patients it was noticed that a significant reduction of hematic ferritin levels occurred, while an efficient erythropoietic activity was maintained. On the contrary, three patients showed iron deficiency characterized by a reduced percentage of total transferrin saturation in the plasma, in the presence of high levels of ferritin in the blood. Also discovered was a missing increase or even a fall of the hemoglobin values that were obtained till now. In these cases, the increase of the hormone dose didn't lead to an improvement, that could only be obtained by the oral or parenteral administration of iron. The Authors in conclusion affirm that iron deficiency is the first cause to be searched for and to be corrected in the presence of missing hemoglobin increase even with adequate doses of r-HuEPO.

[Cystic renal disease in childhood]. / La malattia cistica renale nell'infanzia.

In the last five years, in the Surgery Pediatric Department and in the Pediatric Nephrology and Dialysis Service of the Florence University, have been observed 13 patients with cystic renal diseases. In every single case, for the diagnosis we have considered the age of the patients and the examinations made to them. We payed attention mostly to the echography considered the main diagnostic examination, even in prenatal age.

[Osteodystrophy in children with chronic renal insufficiency in dialysis therapy]. / Osteodistrofia nel bambino con insufficienza renale cronica in trattamento dialitico.

One of the most important complication of patients with chronic renal failure is osteodystrophy. This causes skeletal deformities, growth failure, bone pain and decreased physical activity. Osteodystrophy is more frequent among children than uraemic adults. In fact, 50-80% of children with chronic renal failure may occur in metabolic bone disease and the incidence tends to be higher in those children who have been in uraemic state for a long time before starting chronic haemodialysis. Osteodystrophy is a result of: 1) lesions of rickets; 2) lesions of osteitis fibrosa: 3) osteosclerosis. In contrast to adult, metastatic calcifications are virtually never observed in uraemic children. Hyperphosphoraemia, that is secondary to the reduction of G.F.R., may be the principal responsible of hyperparathyroidism that is the main cause of osteodystrophy. Hyperparathyroidism is also maintained and increased by deficit of 1,25(OH)2D3 which is responsible for lesions of rickets. Haemodialysis may markedly improve osteitis fibrosa and it is efficacious in reversing the mineral defect. Dialysate calcium concentration should be maintained at approximately 3,5 mEq/l. In this case we can raise serum calcium. On the contrary dialysate has to be lacking in phosphorus to correct hyperphosphoraemia. It must be noted that we have to prepare a dialysate with deionized water lacking in aluminum to avoid encephalopathy compliance.