The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

We report a total of 23 novel mutations of the SLC2A2 ( GLUT2) gene in 49 patients with a clinical diagnosis of Fanconi-Bickel syndrome (FBS). Molecular genetic analysis has now been performed in more than 50% of the 109 FBS cases from 88 families that we have been able to locate world-wide since the original report in 1949. In these 49 patients, 33 different SLC2A2 mutations (9 missense, 7 nonsense, 10 frameshift, 7 splice-site) have been detected.

Progressive familial intrahepatic cholestasis: partial biliary diversion normalizes serum lipids and improves growth in noncirrhotic patients.

Objectives: Progressive familial intrahepatic cholestasis (PFIC) usually presents with pruritus, jaundice, hepatomegaly, and growth failure. A group of PFIC is recognized by marked elevation of total serum bile acids, decreased serum apolipoprotein A-1, and high-density lipoprotein, but normal gamma-glutamyltranspeptidase and cholesterol. Although medical therapy generally fails, partial external biliary diversion (DIV) has been used with promising results for cholestasis.

Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria.

Cystinuria is an autosomal recessive disorder of the tubular and intestinal resorption of cystine, ornithine. lysine and arginine leading to nephrolithiasis. Three cystinuria types can be distinguished by the mode of inheritance (true recessive or intermediate) and by the pattern of the intestinal amino acid transport.

Distal myopathy in nephropathic cystinosis.

In long-standing nephropathic cystinosis complications are observed in various organs. Distal myopathy was first described in detail in 1994. The prevalence was calculated to be 24%.

Cystatin C and creatinine after successful kidney transplantation in children.

Background: Serum creatinine is commonly used for the monitoring of allograft function following renal transplantation (RTX). Due to lower muscle mass, creatinine production rate is reduced in children, thus decreasing its sensitivity for the detection of allograft dysfunction. In children, the serum concentration of cystatin C, a low molecular weight protein of 13.

Kidney transplanted children come of age.

Background: The aim of renal replacement therapy in children is to restore their potential for normal growth and development in order to reach mature adulthood. Because pediatric kidney transplantation started in the late 1960s, it is now possible to document the progress and outcome of these patients from transplantation in childhood to survival into adulthood.

Methods: In this single-center study, all 150 children born before December 1977 and having received a kidney transplant between 1970 and 1993 were selected for long-term follow-up.

Does tacrolimus cause more severe anemia than cyclosporine A in children after renal transplantation?

Initial reports indicated the possibility of severe anemia associated with tacrolimus (TC) therapy. We investigated the degree of anemia under TC treatment in comparison to cyclosporine A (CsA) treatment in children after renal transplantation. A cross-sectional analysis of 95 children successfully transplanted for at least 3 months was performed.

Cystatin C--a new marker of glomerular filtration rate in children independent of age and height.

Objectives: Serum creatinine is the most common endogenous marker of renal function. The proportionality between creatinine production and muscle mass requires adjustment for height and body composition. The low molecular weight protein cystatin C is produced by all nucleated cells and eliminated by glomerular filtration.

Reference values for cystatin C serum concentrations in children.

Cystatin C, a low molecular weight protein, is a new endogenous marker of renal function whose serum concentration correlates better with glomerular filtration rate than creatinine. The aim of the present study was to define a reference interval for cystatin C concentrations in children. Cystatin C was measured by an immunoturbidimetric assay in sera obtained from 258 children (93 girls, 165 boys, median age 6.

End-stage renal failure in children younger than 6 years: renal transplantation is the therapy of choice.

Unlabelled: Between 1975 and 1994, 46 children under 6 years of age received a total of 52 renal transplants. Obstructive uropathy and dysplasia accounted for most causes of terminal renal failure (17 and 12 cases respectively). Four patients required a second, 1 patient a third transplantation.

Recurrence of renal disease after kidney transplantation in children: 24 years of experience in a single center.

The aim of this study was to assess the frequency and clinical implications of a recurrence of the original renal disease in children after kidney transplantation. Thus, the records of patients with immunological and metabolic diseases transplanted between 1970 and 1994 were retrospectively analyzed. There were 113 renal transplantations in 99 patients, who had the following original diseases: focal segmental glomerulosclerosis (FSGS), membrano-proliferative glomerulonephritis type I and type II (MPGN I, II), Henoch-Schoenlein nephritis, IgA-nephropathy, hemolytic uremic syndrome (HUS) and hyperoxaluria type I (PH I) and other rare diseases.

Etiologic classification of severe hypospadias: implications for prognosis and management.

Objective: Classification of severe hypospadias employing a broad array of diagnostic tools. Standardization of a diagnostic approach to children with hypospadias. Indentification of patients at risk of having malignancies and endocrine problems.

Response to diphtheria and tetanus booster vaccination in pediatric renal transplant recipients.

Background: Although inactivated vaccines are recommended for immunocompromized patients, efficacy and safety of diphtheria and tetanus immunization in renal transplant recipients have received little attention so far. The aim of the study was to investigate the response to a standard diphtheria and tetanus booster vaccination in pediatric renal transplant recipients.

Methods: Forty-two children, median age 13.

Pharmacokinetics of cyclosporine in pediatric long-term liver transplant recipients converted from Sandimmun to Neoral.

Absorption of cyclosporin from the microemulsion formulation Neoral is less variable than from Sandimmun. Because of a lack of data in pediatric liver transplant recipients, the pharmacokinetic profiles with Sandimmun and Neoral were compared in a conversion study. Thirty-eight children with stable graft function were converted 2-12.

Liver transplantation in children with chronic end stage liver disease: factors influencing survival after transplantation.

To identify pretransplant factors that are influencing survival after orthotopic liver transplantation a Cox proportional hazards regression model was applied to 118 children with chronic terminal liver failure transplanted at Medical School Hannover during the period of 1978 to 1994. The response variable was survival, as covariates a total of 19 pretransplant variables were entered--i.e.

Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure.

Oxalate elimination and oxalate dialysance via hemodialysis (HD) or peritoneal dialysis (CAPD) has not been studied in detail in pediatric patients. We studied plasma oxalate, oxalate elimination, and oxalate dialysance in 15 infants and children undergoing CAPD (9 female, 6 male, aged 9 months to 18 years) and in 10 children on HD (4 female, 6 male, aged 7-18 years). Two children in each group had primary hyperoxaluria (PH).

[Long-term ursodeoxycholic acid treatment of cholestatic liver diseases in childhood--clinical and biochemical effects].

Background: In adults with chronic cholestatic liver disorders, controlled studies have shown a reduction of clinical, biochemical and possibly histological parameters during long-term medication with ursodeoxycholic acid (UDCA). It is not yet clear, however, whether similar effects can be achieved in children. Therefore, we retrospectively evaluated the use of UDCA in typical liver diseases of childhood.

Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie.

The clinical course of 66 boys and 49 girls with autosomal recessive polycystic kidney disease recruited from departments of paediatric nephrology was investigated over a mean observation period of 4.92 years. This is a selected study group of children from departments of paediatric nephrology who in most cases survived the neonatal period, since birth clinics did not participate.

Clinical course of hypophosphatemic rickets in 23 adults.

Twenty-three adult patients (19 females, 4 males) with x-linked hypophosphatemic rickets (HPR) underwent a retrospective evaluation of the clinical course and a clinical examination by a nephrologist, orthopedic surgeon and dentist. Blood and urine analysis, bone density measurements with QCT and DEXA, ultrasonic examination of the kidneys were performed and the patients were asked to fill in a standardized questionnaire on pain and psychosocial rehabilitation. Mean final height was 152.