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Biomedical subjects

J Brodehl

Publications and source records attributed to J Brodehl.

At least 19 recordsLinked to original sources
PubMed1996

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. The median age at diagnosis was 29 days (prenatal to 14.5 years). We observed decreased glomerular filtration rates (GFRs) in 72% (median age at onset of decrease of GFR < 2 SD, 0.6 years; range, 0-18.7 years), and 11 patients developed end-stage renal disease. Hypertension requiring drug treatment was found in 70% (median age at start of medication, 0.5 years; range, 0-16.7 years). Kidney length was above the 97th centile in 68% of patients, and kidney length did not increase with age or deterioration of renal function. Urinary tract infections occurred in 30%, growth retardation in 25%, and clinical signs of hepatic fibrosis were detected in 46%. Thirteen patients (11%) died during the observation period, 10 of them in the first year of life. There was a statistically significant sex difference in terms of a more pronounced progression in girls. The survival probability at 1 year was 94% for male patients and 82% for female patients (p < 0.05) in this study. Urinary tract infections occurred more frequently in girls (p < 0.025) and were observed earlier. In addition, more girls had impaired renal function, developed end-stage renal disease and showed growth retardation; these differences, however, were not significant. For the children in this study, however, our results indicate that the long-term prognosis in the majority of cases is better throughout childhood and youth than often stated.

Adolescent↗
PubMed1996

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 152.4 cm +/- 8.5 SD in females and 157.3 cm +/- 8.9 SD in males. Decreased joint mobility was seen in all patients, deviations of the normal leg axis in 18/23 patients in spite of 69 correcting osteotomies in the past. Dental (n = 14) and psychosocial problems were associated with inability to work (n = 8). There was a trend that patients with a very low Tp/GFR had a more severe course of the disease. Early therapy with vitamin D metabolites and phosphate had a beneficial effect on growth, bone density and deformations. Eight patients had nephrocalcinosis due to vitamin D and phosphate therapy and had normal kidney function. Four patients had urinary tract abnormalities. We conclude that patients with HPR should receive continuous interdisciplinary care given by nephrologists, orthopedic surgeons, physiotherapists and dentists not only during childhood but also as adults.

Adult↗
PubMed1995

Improved absorption of cyclosporin A from a new microemulsion formulation: implications for dosage and monitoring.

Recently, a new oral microemulsion formulation of cyclosporin A (CsA)--Neoral (Sandoz, Basle, Switzerland)--with a higher bioavailability has become available. Ten stable paediatric renal transplant recipients with excessive variations in CsA trough levels with the original Sandimmun (Sandoz, Basle, Switzerland) preparation were switched to Neoral on a 1:1 basis. Pharmacokinetic studies revealed impaired absorption of Sandimmun in six patients. Compared with equal doses of Sandimmun, the 8-h area under the concentration-time curve increased from 1,422 to 2,657 ng x h/ml and the peak concentration rose from 319 to 824 ng/ml (P < 0.01). In six patients with Sandimmun malabsorption, conversion on a 1:1 basis led to a reduction in creatinine clearance which was reversible after dose reduction by 9%-25%. With trough levels at the lower end of the present target range, creatinine clearance stabilised around pre-conversion values.

Adolescent↗
PubMed1995

Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia.

Focal segmental glomerulosclerosis, nephrotic syndrome and chronic renal failure were associated with spondyloepiphyseal dysplasia, growth failure, lymphopenia and transient ischemic attacks leading to severe neurological symptoms in three children. Two boys and one girl developed the full syndrome at the age of 5, 6 and 10 years. Positron emission tomography revealed perfusion defects of both cerebral and cerebellar arteries. A variant of the disease was found in two other children who had a nephrotic syndrome and terminal renal failure with only mild spondyloepiphyseal dysplasia, impaired growth and a normal cerebral function. It is concluded that there may be a close association between focal segmental glomerulosclerosis and spondyloepiphyseal dysplasias.

Brain↗
PubMed1994

Nifedipine aggravates cyclosporine A-induced gingival hyperplasia.

Gingival hyperplasia is a common side-effect of immunosuppression with cyclosporine A. Nifedipine is often used to control hypertension in kidney graft recipients. Analysis of gingival status in 106 children transplanted at our centre, and treated either with azathioprine, cyclosporine A or both, revealed significantly higher degrees of gingival overgrowth in those children receiving a combination of cyclosporine A and nifedipine compared with those children treated with cyclosporine A or nifedipine alone. Seven children undergoing gingivectomy at our centre over the past few years had received this combination. After a change in the antihypertensive regimen, avoiding long-term nifedipine medication, and improved dental care with chlorhexidine gel, we noted a reduction in the degree of gingival hyperplasia. In the majority of patients, nifedipine could be replaced by a single drug, usually hydralazine. We therefore recommend avoiding calcium channel blockers in the long-term management of hypertension in patients receiving cyclosporine.

Adolescent↗
PubMed1994

Absence of cytochrome c oxidase activity in a boy with dysfunction of renal tubules, brain and muscle.

We report on a boy who developed proximal renal tubular acidosis with loss of carnitine at the age of about 6 months. A few months later he began to suffer from progressive muscular weakness and neurological disturbances. Blood biochemistry showed elevated lactate and beta-hydroxybutyrate with increased lactate/pyruvate and beta-hydroxybutyrate/acetoacetate ratios. A high urinary excretion of lactate and citric acid cycle intermediates was found. These results indicated a defect of the mitochondrial respiratory chain. Analysis of biopsy material from skeletal muscle revealed low activities of all respiratory chain complexes. In muscle and fibroblasts cytochrome c-oxidase (complex IV) was absent. Despite high dose multi-vitamin therapy the boy died at the age of 30 months from central respiratory failure. At autopsy the neuropathological diagnosis of Leigh disease was made.

Acidosis, Renal Tubular↗
PubMed1994

Regulation of the mitochondrial ATP-synthase in human fibroblasts.

The F1F0-ATPase activity of mitochondrial complex V can be rapidly measured in sonicated preparations of monolayer skin fibroblast cultures from children. We show that direct regulation at the level of ATP-synthase occurs in these cell preparations. ATP-synthase capacity is decreased in response to blocking of the respiratory chain by cyanide (mimicking anoxia) or uncoupling of mitochondria. ATP-synthase capacity falls to 60% and 35% of control, respectively. Up-regulation of ATP-synthase can be demonstrated in fibroblasts exposed to 4 mmol/l calcium (127% of control). Mitochondrial recovery was unchanged under the different incubation conditions as judged by the activity of mitochondrial marker enzymes. We conclude that direct regulation at the level of ATP-synthase occurs in vivo in human fibroblasts. The naturally occurring inhibitor protein IF1 and the calcium binding inhibitor protein CaBI may be involved in this regulation of ATP-synthase.

Adolescent↗
PubMed1994

Exercise capacity and blood pressure response in children and adolescents after renal transplantation.

Physical working capacity and cardiovascular response to graded exercise on a bicycle ergometer were investigated in 70 children and adolescents (33F, 37M) after renal transplantation. Results of static and dynamic lung function tests were within the normal range in all patients. Systolic blood pressure, heart rate, pulmonary ventilation and oxygen uptake increased with workload and returned to pre-exercise levels after 5 m of rest. During exercise, blood pressure values were within the normal range in almost all patients. The increase in heart rate and respiratory frequency was blunted in patients receiving beta blocking agents. Maximum workloads (Wmax) were 2.00 +/- 0.48 W/kg in females and 2.38 +/- 0.54 W/kg in males, which are 78 +/- 18% and 84 +/- 18% of the normal values predicted for age. Maximum oxygen consumption (VO2max) was 23.2 +/- 5.8 ml/min/kg in females and 28.3 +/- 5.8 ml/min/kg in males. Half of the patients had height below the third percentile. For this reason exercise capacity in relation to height is probably a more relevant parameter than age. Using actual height, Wmax was 102 +/- 20% and 102 +/- 29%, and VO2max 74 +/- 14% and 80 +/- 18% of predicted values, respectively. We conclude that the adaption of the cardiovascular and respiratory system to graded exercise was influenced by beta blocking agents. Wmax and VO2max were significantly reduced for age in pediatric patients after renal transplantation. Wmax was normal, but VO2max was still reduced if corrected for height.

Adolescent↗
PubMed1994

Determination of oxalate excretion in spot urines of healthy children by ion chromatography.

Evidence for the suitability of spot urines for selective screening in children was obtained by comparing the 24-hour urinary oxalate excretion with the ratio of urinary oxalate to creatinine [mmol/mol] in spontaneously voided urine samples. Spot urines of 169 healthy children aged 1 day to 13 years were analysed in order to establish reference values for the urinary oxalate/creatinine ratio in relation to age and body surface area. Oxalate was measured by automated ion chromatography. Results showed an inverse relationship between the oxalate/creatinine ratio and age. The highest ratios, 131 +/- 57 mmol/mol (mean +/- 2 SD), were found in infants. At age two years, the ratio was 84 +/- 55, at age five years 56 +/- 35, and for children older than ten years 42 +/- 31. This finding can be explained by the gain of muscle mass and hence increased creatinine production with increasing age. Data for the urinary oxalate/creatinine ratio are presented according to body surface area for the assessment of children with abnormal growth. In 19 urine samples from nine patients with primary hyperoxaluria, the oxalate/creatinine ratio greatly exceeded (286-2022 mmol/mol) the above reference ranges. We therefore propose the determination of the oxalate/creatinine ratio in spot urines for the selective screening for hyperoxaluria in children with nephrocalcinosis or urolithiasis.

Adolescent↗