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  • 1
    Electronic Resource
    Electronic Resource
    Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 31-38 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Ten families with nephrogenic diabetes insipidus (NDI) have been analysed for restriction fragment length polymorphisms (RFLPs). A search for linkage was performed using various chromosome-specific single-copy DNA probes of known regional assignment to the human X chromosome. Close linkage was found between the disease locus and the markers DXS52, DXS15, DXS134 and the F8 gene. This result assigns the NDI gene to the subtelomeric region of the long arm of the X chromosome. The regional localization of the gene by the identification of closely linked markers should have repercussions for genetic counselling and prevention in NDI families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451451
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  • 2
    Electronic Resource
    Electronic Resource
    The development of anti-glomerular basement membrane nephritis in two children with Alport's syndrome after renal transplantation: characterization of the antibody target (1989)
    Springer
    Pediatric nephrology 3 (1989), S. 406-413 
    Details
    ISSN: 1432-198X
    Keywords: Anti-glomerular basement membrane nephritis ; Alport's syndrome ; Transplantation ; Goodpasture's syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two children with Alport's syndrome are described, who developed anti-glomerular basement membrane (GBM) antibody-mediated nephritis after renal transplantation. The reactivity of antibodies in their serum with collagenase-solubilized normal GBM was examined by SDS-PAGE with one- and two-dimensional immunoblotting. The specificity was compared with that of antibodies present in serum from a patient with Goodpasture's syndrome, and a mouse monoclonal antibody (MCA-P1), directed against the Goodpasture antigen. All reacted in a similar way with collagenase-solubilized GBM. Since abnormalities in the composition of the GBM are present in Alport's syndrome, it is proposed that differing antigen composition of GBM in the host compared with the donor kidney, together with transplant rejection, may have provoked the development of post-transplant anti-GBM antibodies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00850217
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  • 3
    Electronic Resource
    Electronic Resource
    The syndrome of hypertension and hyperkalaemia with normal glomerular function (Gordon's syndrome) (1987)
    Springer
    Pediatric nephrology 1 (1987), S. 473-478 
    Details
    ISSN: 1432-198X
    Keywords: Tubular function ; Atrial natriuretic peptide ; Hypertension ; Acidosis ; Hyperkalaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 14-year-old boy with the syndrome of hypertension and hyperkalaemia with normal glomerular filtration rate (Gordon's syndrome) is described. The patient's clinical symptoms consisted of periodic paralysis, slight metabolic acidosis of the proximal type and hypercalciuria. Prostaglandin excretion was normal. Infusion of atrial natriuretic peptide had no effect on electrolyte excretion or glomerular function although a normal increase in cyclic guanosine monophosphate was demonstrated in plasma and urine. This lack of sensitivity to atrial natriuretic peptide offers a new pathophysiological concept in this syndrome. Treatment with hydrochlorothiazide was successful in this case.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00849256
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  • 4
    Electronic Resource
    Electronic Resource
    Renovascular hypertension in a child with Degos-Köhlmeier disease (1987)
    Springer
    Pediatric radiology 17 (1987), S. 260-261 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 7-year old boy with Degos-Köhlmeier disease developed renovascular hypertension. Arteriography showed peripheral occlusive arteriopathy of the left kidney as part of the Degos-Köhlmeier disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02388181
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  • 5
    Electronic Resource
    Electronic Resource
    Infantile Refsum disease: an inherited peroxisomal disorder (1987)
    Springer
    European journal of pediatrics 146 (1987), S. 477-483 
    Details
    ISSN: 1432-1076
    Keywords: Infantile Refsum disease ; Zellweger syndrome ; Neonatal adrenoleukodystrophy ; Peroxisomal disease ; Mental retardation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441598
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  • 6
    Electronic Resource
    Electronic Resource
    Plasma concentrations of vitamin K1 and PIVKA-II in bottle-fed and breast-fed infants with and without vitamin K prophylaxis at birth (1988)
    Springer
    European journal of pediatrics 148 (1988), S. 139-142 
    Details
    ISSN: 1432-1076
    Keywords: Vitamin K deficiency ; Breast-fed infants ; Vitamin K prophylaxis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Plasma vitamin K1 and proteins induced by vitamin K absence (PIVKA) were assayed simultaneously 1–4 days and 29–35 days after delivery in three groups of infants: breast-fed not receiving vitamin K at birth (n=12), bottle-fed without vitamin K administration at birth (n=7) and breast-fed receiving 1 mg vitamin K1 administered by intramuscular injection at birth (n=13). The bottle-fed infants had a significantly higher vitamin K1 plasma level than breast-fed infants who did not receive vitamin K1 at birth. Extremely high levels of vitamin K were obtained 1–4 days after intramuscular administration. At the age of 1 month, breast-fed infants had the same plasma vitamin K1 concentration whether or not they had received vitamin K1 supplements. Decarboxy prothrombin (PIVKA-II) a reliable indicator of biochemical vitamin K deficiency, was found in 5 out of 12 breast-fed and in 2 out of 6 bottle-fed infants who had not received supplemental vitamin K1 after birth. In a separate study, we followed up to 90 days after birth a larger group if infants. PIVKA-II was found with significantly greater frequency in breast-fed infants receiving no vitamin K than in breast-fed infants receiving 1 mg vitamin K intramuscularly at birth, or in bottle-fed infants without extra vitamin K1. These data form a strong argument for routine vitamin K prophylaxis after birth for all breast-fed infants. The optimum dose and manner of administration require further study.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445922
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  • 7
    Electronic Resource
    Electronic Resource
    Disturbed very long chain (C24–C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndrome (1985)
    Springer
    Journal of inherited metabolic disease 8 (1985), S. 5-8 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The very long chain fatty acids in cultured fibroblasts from six patients with the cerebro-hepato-renal syndrome of Zellweger, from six of their parents, from three controls, and also in three amniotic fluid control cell lines were analysed by gas chromatography. Increased concentrations of hexacosanoic acid (C26:O) were consistently found in the Zellweger syndrome. Also the ratios C26:O/C22:O, C25:O/C22:O, and C24:O/C22:O were elevated. The very long chain fatty acid levels and ratios in fibroblasts from the patients' parents were within the normal range. Findings in amniotic fluid cell lines indicate the possibility of antenatal diagnosis for Zellweger's syndrome. The similarities between neonatal adrenoleukodystrophy and Zellweger's syndrome suggest the applicability of this technique also in neonatal adrenoleukodystrophy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01805473
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  • 8
    Electronic Resource
    Electronic Resource
    Pipecolic acid levels in serum and urine from neonates and normal infants: Comparison with values reported in Zellweger syndrome (1985)
    Springer
    Journal of inherited metabolic disease 8 (1985), S. 87-91 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Pipecolic acid (PA) excretion from normal newborn, preterm and/or small-for-dates infants has been determined and correlated with gestational age, sex and age after birth. An effect of fetal sex was not detectable. Only small-for-dates infants with a gestational age of 〉34–37 weeks had a lower urinary excretion of PA than the appropriate-for-dates infants with the same gestational age. Preterm infants had a higher excretion of PA than term neonates. PA excretion of infants decreases with age after birth. This higher excretion in “younger” infants can be explained by a higher serum concentration and less efficient tubular reabsorption. PA level in serum and urine remains a valuable tool for the confirmation of the clinical diagnosis of Zellweger syndrome when gestational age and age after birth are taken into consideration. No PA was detected in serum or urine of four children suffering from hyperthyroidism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01801673
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  • 9
    Electronic Resource
    Electronic Resource
    Peroxisomal disorders: Clinical characterization (1987)
    Springer
    Journal of inherited metabolic disease 10 (1987), S. 23-32 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The peroxisomal disorders can be divided into three classes: firstly, those in which the activity of only one single enzyme is reduced; secondly, those in which the activities of multiple peroxisomal enzymes are deficient and also the number of peroxisomes is reduced; and thirdly, those in which the activities of multiple peroxisomal enzymes are lacking and at the same time the number of peroxisomes is normal at least in liver tissue. The cerebro-hepato-renal syndrome of Zellweger is the prototype of peroxisomal disorders of the second group. Clinical distinction between Zellweger syndrome and neonatal adrenoleukodystrophy or infantile Refsum disease can be impossible. The clinical abnormalities that should give rise to suspicion for the presence of a peroxisomal disorder and urge the necessity of further biochemical studies are proposed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01812844
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  • 10
    Electronic Resource
    Electronic Resource
    Further analysis of the disturbed adrenocortical function in the cerebro-hepato-renal syndrome of zellweger (1989)
    Springer
    Journal of inherited metabolic disease 12 (1989), S. 423-428 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-desoxycortisol, cortisol and cortisone were determined simultaneously in small plasma samples obtained during an i.v. ACTH (Synacthen) stimulation test in five patients (age 4–7 years) with Zellweger syndrome. The response of all ACTH-dependent steroids to Synacthen was severely impaired in all patients, despite normal basal levels. It can be concluded that the biochemical defect in adrenal steroidogenesis causing the inadequate response to ACTH injection is located proximal to progesterone. We propose that the lack of responsiveness to ACTH is secondary to an abnormality of ACTH receptors on the adrenocortical cell. The extremely low levels of non-specific lipid transfer protein may be a contributing factor.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01802037
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