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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. In this article the founding and early years of the ESPN are outlined and include the structure of the first ten annual ESPN meetings from 1967–1976. Historical reports are given by five pioneers who were first-hand witnesses of the development of pediatric renal care in Europe.

Extract: In 8 of 10 patients with pseudohypoparathyroidism, confirmed by increased immunoreactive plasma parathyroid hormone concentrations and/or defective urinary excretion of adenosine 3′,5′-monophosphate (cAMP) after parathyroid extract infusion, excessive plasma thyrotropin (thyroid-stimulating hormone) (TSH) response to thyrotropin-releasing hormone (TRH) injection was found. On the other hand, in all seven cases with idiopathic true hypoparathyroidism the TSH response was normal. In two of three patients with pseudopseudohypoparathyroidism, with normal or slightly low plasma calcium, normal or slightly high immunoreactive plasma parathyroid hormone concentration, and intermediate response of cAMP to parathyroid extract, the TSH response to TRH was increased. The results indicate that moderate primary hypothyroidism is frequently present in pseudohypoparathyroidism. Thyroid dysfunction may only be detectable with the use of TSH stimulation by TRH, since clinical signs and other studies of thyroid function did not definitely suggest hypothyroidism in our patients. The rise of TSH is suppressible by thyroxine treatment, but is not influenced by vitamin D treatment. The TSH response to TRH is significantly correlated with the decrease of tubular reabsorption of phosphate after parathyroid extract infusion in patients with pseudo- and pseudopseudohypoparathyroidism. Speculation: TSH stimulation by TRH may be a useful test for the further delineation of biochemical variants of pseudohypoparathyroidism.

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. In two patients the diagnosis of idiopathic hypoparathyroidism was established on the basis of undetectable serum parathyroid hormone (PTH) levels (N- and C-terminal RIAs); one of these had normal urinary cyclic adenosine monophosphate (cAMP) response to exogenous PTH. Circulating calcitonin was undetectable in either patient. In a third patient, who had abnormal body proportions, serum levels of PTH were increased in an RIA detecting predominantly intact PTH (N-RIA) and undetectable in another RIA recognizing carboxy-terminal fragments (C-RIA). Administration of PTH promptly increased urinary cAMP excretion. In this patient, serum levels of calcitonin were increased, whereas values for 25-OHD and 1,25(OH)2D were normal.

Forty patients with hypocalcemia and/or Albright's hereditary osteodystrophy were studied. Based on the estimation of serum calcium and parathyroid hormone (PTH) levels as well as the urinary cAMP response to infusions with parathyroid extract, it was possible to classify all of the patients studied as cases with idiopathic hypoparathyroidism (n = 6, low PTH, normal cAMP response), pseudohypoparathyroidism (PHP) type I (n = 18, high PTH, low cAMP response) and type II (n = 2, high PTH, normal cAMP response), as well as pseudopseudohypoparathyroidism (n = 14, normal PTH, normal cAMP response). In three cases studied at the age of 12, 17, and 23 yr, the signs of Albright's hereditary osteodystrophy were not observed. PTH levels were unusually high for a given serum calcium concentration in some patients with PHP, the increased PTH levels were, however, normalized during iv calcium infusions. In two young children with PHP, a gradual increase of serum PTH levels occurred despite persistent normocalcemia over a period of 3 yr. This suggests that factors other than hypocalcemia or frequent small unobservable falls of the serum calcium concentration, such as a deficient formation of 1,25-dihydroxyvitamin D3, secretion of an abnormal PTH, or an abnormal metabolism of the hormone, may contribute to the secondary hyperparathyroidism in PHP.

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. Case 1, whose brother had died of infantile oxalosis, already had greatly increased urinary oxalate and glycolate excretion at 7 days of age. In Case 2, PH I was diagnosed early because of the finding of increased renal echogenicity at 3 weeks of age; this patient had numerous episodes of stone formation despite continuous treatment with pyridoxine, but maintained renal function with normal serum creatinine levels at the age of 28 months. Prenatal diagnosis was attempted in case 1; however, amniotic fluid oxalate and glycolate concentrations were normal, suggesting that these acids pass the placenta and are not retained. The recent discovery of a transamination defect (deficiency of the peroxisomal enzyme alanine: glyoxylate aminotransferase) explains why some patients respond to pyridoxine treatment. Differences in onset and severity of PH I and in response to pyridoxine suggest that this disorder is biochemically and genetically heterogeneous.

In all of 10 cases with PHP (3 adults, 3 adolescents and 4 children from 5 families) intravenous TRH evoked excessive plasma thyrotropin responses as seen in mild primary hypothyroidism. A similar response was found in 4 among 6 cases with HP (1 adolescent and 5 children from 5 families). In none except 2 cases were clinical signs or other laboratory data suggestive of hypothyroidism. The diagnosis of PHP or HP was ascertained by the determination of immunoreactive serum parathyroid hormone and/or of urinary cyclic adenosine 3' 5' -monophosphate after intravenous infusion of parathyroid extract. TRH did not induce significant changes of serum parathyroid hormone concentration in any of 8 cases (6PHP, 2HP) tested.

A 17 year old boy and a 11-year-old girl, both with negative family histories, have been observed since the age of 6 years (case 1), and of 3 months (case 2 Generalized osteoporosis without rickets was discovered at the age of 9 years (case 1) and 3 years (case 2), and persists without any sign of improvement. Two pathological fractures ocurred in the boy, 3 in the girl. They healed with hardly any callus formation. The serum phosphorus is slightly decreased in both patients, while serum calcium, alkaline phosphatase, and renal functions are normal. The boy shows a marked hypercalciuria (6 to 13mg/kg/24h.), which responds to treatment with oral sodium phosphate, but not to hydrochlorothiazide. In addition, there is a severe mental and a moderate growth retardation in both children. The boy is microcephalic. No other chronic disease could be found which would cause the bone disease. This osteoporosis does not fit into the picture of osteogenesis imperfecta nor of idiopathic juvenile osteoporosis, and might therefore be another type of demineralizing bone disease.