The founding and early history of the European Society for Paediatric Nephrology (ESPN).

The founding of the European Society for Paediatric Nephrology (ESPN) in 1967 was the milestone for pediatric nephrology in Europe. Now, at the beginning of the 21st century, more than 2,000 European pediatricians in 46 European countries work in the field of pediatric nephrology, and approximately 500 of these meet regularly at the annual ESPN meetings. Half of these 2,000 pediatricians work in about 200 specialized pediatric nephrology centers in tertiary care units, whereas the other half work in secondary pediatric care, with a special interest in common renal diseases.

[Interesting cases in clinical practice concerning Kawasaki syndrome and child abuse].

Typical cases and families are reported to inform the reader about two new or newly recognized conditions of infants and young children, Kawasaki syndrome and child abuse. Although such patients have usually to be cared for in hospitals, it is the responsibility of the general practitioner to suspect the diagnosis in a very early phase and to refer the child immediately. Kawasaki syndrome, also called mucocutaneous lymph node syndrome, is an acute disease of infants and young children with yet unknown cause.

An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features.

Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth retardation, a fine, triangular face, a high frontal hairline and prominent forehead, clinodactyly of the fifth fingers, and sometimes asymmetry of face, trunk and extremities. In a 10-year-old girl referred for SRS, cytogenetic examination disclosed a microdeletion of band 8q12. Dosage analysis of Southern blots hybridized to 8q markers revealed a deletion of three loci: MOS, D8S96 and D8S108, all mapping to 8q11-q12, however the deletion did not include PLAT (8q12-q11).

Long-term low-dose cyclosporin A in steroid dependent nephrotic syndrome of childhood.

Therapy of steroid-dependent idiopathic nephrotic syndrome is often unsatisfactory. Since 1986 we have treated nine children (six male and three female), aged 3-16 years, with cyclosporin A (CsA) during 2.0-5.

[The clinical relevance of phosphorus and calcium in infant nutrition].

This paper is an introduction to the clinical part of the symposium and deals with the question of whether and under which circumstances the calcium and phosphorus content in baby formula can provoke pathological conditions. In a healthy baby, high or low mineral intake is efficiently compensated for by Ca-P homeostasis. Both nutritional calcium deficiency and calcium excess are the exception with modern baby feeding practices.

Acute mastoiditis: clinical, microbiological, and therapeutic aspects.

The charts of 73 children (31 girls, 42 boys) aged 4 months to 14 years (mean 4.5 years) with acute mastoiditis managed during a 16-year period were reviewed. Of the patients 36% were less than 24 months old.

Immunological evaluation in the early diagnosis of prenatal or perinatal HIV infection.

A longitudinal evaluation was carried out of the clinical, infective, and immunological progress of 34 children (who were aged 6 to 68 months--mean 25 months at the time of writing) born to 31 mothers infected with human immunodeficiency virus (HIV), over a mean observation period of 13.4 months. Clinical symptoms, not always clearly related to HIV became apparent in 11 children, and preceding immune abnormalities were documented in two of them.

[Magnetic resonance in pediatric research and clinical practice. I. What can we expect from this new method?].

Nuclear Magnetic Resonance (NMR) was first observed over 40 years ago and has recently also entered the field of human medicine. It currently attracts increasing attention from biologists and clinicians alike, and the scope of its different applications is in a phase of explosive development. Two principle developments of the MR method are taking place over the recent years and are of special interest for pediatricians and neonatologists.

New aspects of infantile oxalosis.

Infantile oxalosis is the most severe form of primary hyperoxaluria type I (PH I). Only 28 patients have been reported in detail; it was found that diagnosis was usually delayed, and most patients presented before the age of 4 months in renal failure and died within the 1st year of life. This report comprises two infants in whom diagnosis of PH I was made in the first few weeks of life before renal function was impaired.

[Diagnostic results of pediatric-child psychiatric cooperation exemplified by the Pediatric Clinic of the Winterthur Canton Hospital 1971-1980].

This article reports on the diagnostic results of 232 patients who were examined in close collaboration by the paediatrician and the child psychiatrist at a Swiss children's hospital between 1971 and 1980. The main diagnosis was psychogenic disorders with mainly psychic symptoms in 53.9% of the cases, psychogenic disorders with mainly somatic symptoms in 37.

[Hemihypertrophy in a boy with polycystic kidney].

Ultrasonographic and radiological examination of a male newborn with a mass in the left lumbar region revealed bilateral polycystic kidneys. At the age of 6 months, a moderate hemihypertrophy of the left side was detected and confirmed with 2 1/2 years. Growth, development and renal functions are normal.

[Malignant atrophic papulosis (Degos' syndrome) in a suckling infant].

The clinical and histological diagnosis of Degos' syndrome could be made in a 8-month-old infant with scarring skin lesions. Some weeks later the baby developed severe intestinal symptoms and died from perforations of multiple necrotic lesions of the small bowel. Autopsy revealed in addition to the skin and gut lesions a haemorrhagic cortical infarction of the brain and fibrotic areas in the myocardium.

Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.

We report three unrelated patients with Kenny syndrome. Clinical symptoms included severe dwarfism, with internal cortical thickening and medullary stenosis of the tubular bones, normal bone age, macrocephaly, absent diploic space, delayed closure of the anterior fontanel, and normal intelligence; two of the patients had hyperopia and papillary edema. The patients also had episodic hypocalcemic tetany and low serum levels of magnesium.

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.

Two families with X-linked dominant hypophosphatemia (McKusick No. *30780) were investigated for linkage of the disease locus with several marker genes defined by cloned, single-copy DNA sequences derived from defined regions of the X chromosome. Close linkage was found with DNA markers DXS41 (p99-6) and DXS43 (pD2) at Xp22, suggesting a location of the HPDR gene on the distal short arm of the X chromosome.

[Cardiac rhabdomyoma in familial tuberous sclerosis].

Case report of a previously healthy girl who presented at the age of 9 months a paroxysmal supraventricular tachycardia. Echocardiography revealed multiple cardiac tumors. The detection of a few hardly visible unpigmented patches of skin allowed the diagnosis of tuberous sclerosis with cardiac rhabdomyomas.

Outcome of pediatric patients with end-stage renal disease in Switzerland 1973-1982.

The annual incidence of end-stage renal disease (ESRD: 1.32 patients aged 1/2-16 years per million population or 6.5 per million children of same age) and the causes have remained remarkably constant over the last 15 years in Switzerland.

Early history of familial hypophosphataemic vitamin D-resistant rickets. Report of three cases observed since birth.

Three patients with familial hypophosphataemic vitamin D-resistant rickets (FHR) born to affected mothers have been clinically, radiologically and biochemically observed since birth. The value of the different early diagnostic signs is evaluated, and the efficiency of early phosphate and vitamin D treatment is discussed. Our observations suggest the following conclusions: Infants of FHR affected mothers can be diagnosed as having the disease by careful physical examinations and by a pathological increase of serum alkaline phosphatase with normal serum calcium, before radiological signs of rickets occur.

Survival time in cystinosis. A collaborative study.

In a retrospective study the overall survival time of 205 cystinotic patients of six countries was determined. The median survival time was 8.5 years.

[Calcium homeostasis in the newborn infant].

The Calcium homeostasis in the perinatal period depends on the changes of the Calcium balance and on the influence of the three Calcium-regulating hormones parathyroid hormone, Calcitonin and 1,25-Dihydroxycholecalciferol. The most common disorder is neonatal hypocalcemia which occurs either as early type (frequent, mainly in prematures) or as late type (rare, probably due to transient hypoparathyroidism).

[Blood glucose in the full-term newborn infant in the 1st hour following birth].

Blood glucose (BG) concentrations were measured in cordblood and in capillary blood 15 and 60 min after birth in 672 consecutive full term newborns with adequate birth weight and without major perinatal complications. The glucose oxydase method was used. The results (mean +/- 1 SD) were in umbilical vein 67.

The incidence of coeliac disease in children in Switzerland.

In the pediatric hospitals and clinics of Zurich, St. Gallen, Winterthur, Aarau and Lucerne, 488 cases of coeliac disease have been found in children born between 1960 and 1978. The diagnosis was established clinically and confirmed by intestinal biopsy in each case.