S U M M A R Y1. Plasma renin concentration (PRC) in newborns greatly exceeded PRC in children and adults. PRC in cord plasma of newborns was higher than peripheral venous PRC in their mothers. PRC in the newborns increased further in the first 48 h post partum and then gradually decreased.2. The mean PRC of healthy children and adults on free sodium intake decreased with age by an exponential function.3. The absolute increase of PRC in response to upright posture (PRCuprighl-PRCr,,,,b,,,) decreased with age. The relative increase of PRC in response to upright posture (PRC,,,,,,, : PRC,,,,,,,,,) remained unchanged with age, the PRC in upright posture being about twice the basal PRC in all age groups.Key words: age-dependent renin, renin in childhood, plasma renin concentration. Z U S A M M E N F A S S U N G1. Die Plasma Renin Konzentration (PRC) war in der Neonatalperiode hoher als in der Kindheit und im Erwachsenenalter. Im Nabelschnurblut Neugeborener fand sich eine hohere PRC als im peripher-venosen Blut ihrer Mutter. Die PRC der Neugeborenen stieg innerhalb der ersten 48 Stunden post parrum weiter an und fie1 dann allmahlich ab. 2. Dzr altersabhangige Abfall der PRC gesunder Kinder und Erwachsener wahrend freier Nahrungsaufnahme folgte einer Exponentialfunktion. 3. Der absolute Anstieg der PRC nach aktiver Orthostase (PRCo,lhoslase -PRCRuhe) verminderte sich mit zunehmendem Alter. Der relative Anstieg (PRCorlhoslase : PRCR,,,) war unabhangig vom Alter; die PRC nach Orthostase betrug etwa das Doppelte des Ruhewertes in allen Altersgruppen. 213s 274s K. Hayduk et al.Numerous studies have been done on plasma renin concentration and plasma renin activity in adults in various physiopathological conditions, but there are only a few data in the literature concerning these parameters in the neonatal period and in childhood (

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We describe a patient with the biochemically established combination of Farber and Sandhoff disease. A 6-month-old girl of consanguineous Turkish parents presented with hoarseness, stridor, scattered skin nodules, painful swelling of hand joints and ankles, and cherry-red macular spots. Until the age of 2 years her motor and physical condition deteriorated distinctly, however her mental state remained unchanged. A biopsied skin nodule disclosed lysosomal inclusions within storage cells that were typical of Farber disease (curved tubular structures). However, other inclusions (e.g. zebra bodies) were also found. Biochemical findings included ceramide accumulation in skin nodules and cultured fibroblasts, impaired ceramide degradation on loading of cultured fibroblasts with radioactive sphingomyelin, profoundly decreased ceramidase activity in fibroblasts as well as total beta-hexosaminidase activity in fibroblasts and serum, absent hexosaminidase A and B bands on cellogel zymograms, increased urinary oligosaccharide excretion of the Sandhoff disease type, and a partial reduction of ceramidase and total beta-hexosaminidase activities in fibroblasts from her father. A diagnosis of combined Farber and Sandhoff disease was made. The effect of both enzyme deficiencies on the clinical manifestations in this patient and the genetic basis of this combination require further studies.

Nine patients (8 girls and 1 boy) suffering from precocious puberty received daily 100 mg/m2 cyproterone acetate orally. This treatment inhibited the vaginal bleeding; breast-size and the axillary hair and pubic hair did not further increase. The height increment per year and the bone maturation slowed down. The urinary excretion of androgens was temporarily diminished. It is probable that the growth prognosis could be improved by the administration of cyproterone acetate.

Nine cases with the hydrometrocolpospolydactyly syndrome (4 males, 5 females) from four unrelated families are presented. Leading symptoms of this rare disorder were hydrocolpos and postaxial polydactyly. Three affected girls had urinary hydrocolpos without vaginal septum or imperforate hymen, one had partial vaginal atresia, and one had no hydrometrocolpos. Glandular hypospadias and prominent scrotal raphe are added to the spectrum of malformations in this disorder in males. The literature is reviewed and problems in genetic counseling in this autosomal recessive disorder are discussed.