Early sonographic aspects of kidney morphology in Bardet-Biedl syndrome.

Bardet-Biedl syndrome is an autosomal recessive disorder characterized by postaxial hexadactyly, obesity, mental retardation, pigmented retinopathy, hypogonadism, and renal disease. Morphological changes are present in all areas of the kidney, the renal medulla being the most frequently affected site. Cystic and dysplastic changes are prevalent. Seven children from five families were followed from birth through their 5th birthday. Serial renal sonography revealed a number of characteristic features. Bilateral renal enlargement and increased parenchymal echogenicity were present at birth. The usual corticomedullary differentiation was absent. Pyramids were either not seen or deformed. With high-resolution ultrasonography, small cysts were detected at the corticomedullary junction. After the 3rd month of life, there was a striking inversion of normal echogenicity, the inner medulla became more echogenic and was demarcated from the less-echogenic cortex. After 12 months, the kidney size regressed significantly. Fetal lobulation persisted in some patients. In conclusion, ultrasonography is a useful tool to evaluate the extent of renal lesions, but more importantly to differentiate bilateral polycystic kidney diseases in the newborn period.

[Urinary flow and bladder evacuation disorders]. / Uroflow und Harnentleerungsstörungen.

The uroflow investigation is an important tool for the detection of functional bladder disturbances: since non-invasive it may be also repeated for several times thus intensifying the validity of the method. On the other hand the result of the flow pattern may lead to a proper diagnosis with the consequence of adequate therapy only in the context of further imaging procedures like ultrasound and micturation-cystogram.

Non-neurogenic bladder and chronic renal insufficiency in childhood.

Functional voiding disorders and urinary tract infections are common in childhood, but are usually not accompanied by upper urinary tract deterioration. Nevertheless a small group of children remain at risk of developing chronic renal insufficiency (CRI). Clinically these children present day and night wetting. The most important parameter, however, is urinary retention which is reflected by an abnormal voiding pattern in the uroflow curve. After ruling out patients with neurogenic or anatomical disorders, nine girls with psychogenic urine retention were observed for 5 years. Terminal renal insufficiency was seen in one, CRI in five patients and in three patients the kidney function could be maintained, but they all had severe scarring of at least one kidney. Furthermore, all revealed a dilation of the bladder and the upper urinary tract. Vesicoureteral reflux occurred in six and obstruction of the ureterovesical junction in three patients. Two girls underwent repeated reflux surgery resulting in a rapid deterioration of renal function. Three patients developed hypertension and one had a hypertensive crisis with microangiopathic anaemia and acute renal failure. Psychogenic disorders and problematic family settings were observed in all cases. Bladder training, transitory suprapubic catheters, intermittent catheterisation, medication and psychotherapy can avoid severe kidney damage and achieve a stabilisation of renal function. It is important to bear this syndrome in mind when evaluating girls with asymptomatic bacteriuria and urinary retention.

Human leucocyte antigens in idiopathic nephrotic syndrome in children.

An association of the idiopathic nephrotic syndrome (NS) with certain human leucocyte antigens (HLA) has been reported repeatedly. The aim of this study is to characterize further the clinical and histological features of patients with NS in relation to their HLA phenotypes. HLA antigens were determined in 132 paediatric patients with NS. In 91 steroid-sensitive patients (usually associated with minimal glomerular changes), the antigen frequencies of HLA-DR3, HLA-DR7, and HLA-B8, -DR3 combined were significantly increased compared with controls. The strongest association was observed with the combined occurrence of HLA-B8, -DR3, -DR7 (relative risk 21.5). This association and that with HLA-DR3 alone were strongest in the presence of frequent relapses and steroid dependence compared with children without or with infrequent relapses. The pattern of HLA antigens was similar in the 57 steroid-sensitive patients with biopsy-proven minimal glomerular changes. In 41 children with steroid-resistant NS (usually associated with focal segmental glomerulosclerosis) a similar trend for increased antigen frequencies was found but the data were significant only for the combined occurrence of HLA-B8, -DR3 and -DR7. In all patients combined the frequency of the HLA associations was significantly lower when the age of onset was greater than 8 years compared with that of younger patients. It is concluded that the immunogenetic background of the steroid-sensitive and steroid-resistant NS is different and age-dependent.

[Hidden IgM rheumatoid factor in chronic juvenile arthritis. An open multicenter diagnostic study]. / "Hidden"-IgM-Rheumafaktor bei juveniler chronischer Arthritis. Eine offene Multicenter-Diagnostikstudie.

244 patients with a provisional diagnosis of juvenile chronic arthritis were investigated for serological presence of "hidden" IgM-rheumatoid-factor with a newly developed ELISA-technique. By clinical and laboratory criteria 130 patients were left with proven JCA. In active polyarticular disease "hidden" IgM-RF was found in 65%, whereas in pauciarticular disease (type I, II) a positive "hidden" IgM-RF rather excludes a patient from these two groups. A positive "hidden" IgM-RF with pauciarticular onset was seen in older girls (greater than 10 years) even in an inactive state and in younger patients with a changing clinical pattern to polyarticular disease.

Therapy for systemic juvenile rheumatoid arthritis with gamma-interferon: a pilot study of nine patients.

Nine severely ill patients with a confirmed diagnosis of systemic juvenile rheumatoid arthritis were treated with recombinant gamma-interferon (gamma-IFN) in addition to the therapy they were previously receiving for their disease. Improvements in clinical symptoms were noted in 7 of the patients, and median laboratory values also showed a marked improvement after gamma-IFN treatment. A relapse occurred in 1 patient. The results of this study should stimulate further research on the use of gamma-IFN in systemic juvenile rheumatoid arthritis, particularly in determining the appropriate effective dosage.

A new method for the detection of hidden IgM rheumatoid factor in patients with juvenile rheumatoid arthritis.

The sera of 56 children with active seronegative juvenile rheumatoid arthritis were examined for the presence of hidden IgM rheumatoid factors (RF) by use of a rapid new method consisting of ion exchange chromatography and an ELISA assay. Elevated hidden IgM-RF levels were detected in 57% of all patients (median value 0.6 IU/ml, p less than 0.01), in 67% of patients with polyarticular disease (1.1 IU/ml, p less than 0.005), in 62% of the group with monoarticular disease (0.6 IU/ml, p less than 0.02), and in 60% of the group with systemic disease (0.6 IU/ml, NS). Whereas hidden IgM-RF plays no role in HLA-B27 positive disease, we found raised titers in 86% of B27 negative patients (0.8 IU/ml, p less than 0.001).

[Metabolism of parenterally administered amino acids in chronic kidney failure in childhood]. / Untersuchungen über die Verwertung parenteral zugeführter Aminosäuren bei chronischer Niereninsuffizienz im Kindesalter.

Twenty children (8 months to 17 years old) with chronic renal insufficiency were infused with a 10% L-amino acid solution (1 ml/kg B.W. over 3-5 min). Amino acid blood concentrations were measured in the basal state and repeatedly after the end of infusion. The elimination constant, half-life, clearance, corrected transfer and pool size were calculated for the individual amino acids. The results were analyzed for gender specific and age-related differences. The control group consisted of 19 healthy children. (1) Almost all basal free amino acid concentrations in the chronic renal patients showed abnormalities typical for this disease. (2) Calculation of the pharmacokinetic data demonstrated differences between chronic renal patients with predominantly glomerular and those with predominantly tubular disease. (3) The half-lives and elimination constants did not differ from normal. Evaluation of age-related changes demonstrated no abnormalities for these 2 parameters in renal patients. (4) On the average, the clearance value for the group with primarily glomerular disease was 57% of normal; that of the group with predominantly tubular disease was 115% of normal. (5) Analogously, the average corrected transfer was 56% and 113% of normal; the pool size was 67% and 139% of normal. (6) No gender specific differences were found. (7) The clearance values for lysine, threonine, glycine and proline in infants and toddlers exceeded those found in older children. (8) The corrected transfer values for threonine, arginine, histidine, glycine, alanine and serine in children 8 to 31 months of age were significantly higher than those found in the rest of the children. (9) No significant age-related differences in pool size were found.

[Atopy, HLA-system and steroid sensitive nephrotic syndrome (author's transl)]. / Atopie, HLA-System und steroidsensibles nephrotisches Syndrom im Kindesalter.

Atopic features are frequently observed in patients with steorid sensitive nephrotic syndrome. In the younger child food allergies are dominant, while older children develop allergies against pollens. Serum IgE rather is elevated in those patients with nephrotic syndrome accompanied by atopy. The natural course of allergy is independent of that of the nephrotic syndrome. No clear association of one of the known HLA-Antigens could be observed as was previously postulated by others.

HLA antigens in children with idiopathic nephrotic syndrome.

HLA antigens were examined in 146 children with idiopathic nephrotic syndrome (INS). These comprised 107 steroid-responsive cases, histologically characterised by minimal change glomerular lesions (MC), and 39 steroid-resistant patients with focal-segmental glomerulosclerosis (FSGS). In the MC groups, B8 was significantly increased as compared to controls (30% vs 18%, p less than 0.01), and this applied in particular to children with atopic features (38% B8 positive). In contrast to other reports, the frequency of B12 in steroid-responsive INS was not different from that of the control group. In FSGS, however, B12 was remarkably increased, especially in patients with a persistent or progressive nephrotic syndrome (45% vs 22%, p less than 0.025). These findings indicate that immunogenetic factors play a major role in INS, and that MC and FSGS are two different disease entities.

[Haematuria in children. IV. Therapie of chronic renal insufficiency in childhood (author's transl)]. / Das nierenkranke Kind. IV. Die Behandlung der chronischen Niereninsuffizienz (CNI) im Kindesalter.

The care of children with chronic renal insufficiency implies close cooperation between paediatric practitioners and paediatric units for renal disease. The children's disease must be detected at an early stage, its cause and course clarified. Adequate medical, psychological and social care during the period of compensated retention reduces complications at the beginning of dialysis- and transplant-programmes. At the moment good results in children justify the considerable expense. Many problems still remain unanswered as far as long term prognosis, growth, psychological, social, and sexual development are concerned.