This report describes a boy with an atypical severe from of Cockayne syndrome type II manifesting in infancy. He developed nephrotic syndrome at the age of 4.7 years and a hypertensive crisis with hemiparesis at 5.4 years. Renal biopsy revealed focal segmental glomerulosclerosis, which was confirmed at autopsy. Adrenocortical failure was also present. The course was characterized by frequent infections and an episode of myocarditis. The boy died at the age of 6.0 years after rapid neurological deterioration accompanied by renal insufficiency. Autopsy disclosed cerebral leukodystrophy compatible with Cockayne syndrome.
A hitherto undescribed dual deficiency of uroporphyrinogen III synthase and uroporphyrinogen decarboxylase was observed in the erythrocytes in a 14 year-old patient who had presented with congenital erythropoietic porphyria since early childhood. Whereas congenital erythropoietic porphyria was metabolically and clinically overt, a hereditary deficiency of uroporphyrinogen decarboxylase was confirmed by family study. The uroporphyrinogen III synthase activity of the propositus was decreased to 26% of the control while his asymptomatic family members had activities between 53-65% of the control. Additionally, the uroporphyrinogen decarboxylase activity was 55-66% of the control in the patient and his family. Family investigations have shown that the two disorders do not consistently segregate together. Although urinary porphyrin excretions of relatives were in the physiological range, the proportion of coproporphyrin isomer I showed a relative increase, which can serve as a biochemical indicator for heterozygous uroporphyrinogen III synthase gene carriers. Brought to you by | University of Queensland -UQ Library Authenticated Download Date | 7/15/15 7:30 AM Brought to you by | University of Queensland -UQ Library Authenticated Download Date | 7/15/15 7:30 AM
A 9-year-old boy with typical features of congenital erythropoietic porphyria who had received more than 50 blood transfusions developed the steroid-resistant nephrotic syndrome in the presence of normal glomerular function and glucosuria. Renal biopsy showed focal segmental glomerulosclerosis and widespread iron deposits. Magnetic resonance scanning revealed advanced siderosis of liver and kidneys. During a 4 year treatment by desferrioxamine the serum ferritin level was reduced, proteinuria dropped and serum proteins increased whilst glomerular filtration decreased slowly. It is suggested that the nephrotic syndrome may be a consequence of renal siderosis amenable to iron-chelating therapy.
ZusammenfassungFall. Es wird über den Fall eines fast 4-jährigen Mädchens mit ektopen Vorhoftachykardien, das unter Amiodaronbehandlung eine asymptomatische Pankreatitis und Hepatopathie entwickelte, berichtet. Resümee. Mit diesem Beispiel soll auf diese Nebenwirkung unter Amiodarontherapie bei Kindern hingewiesen werden. SchlüsselwörterAntiarrhythmika · Amiodaron · Nebenwirkungen · Pankreatitis · Hepatopathie Amiodaron wird bei Kindern bei Reentry-Tachykardien und therapierefraktärem Vorhofflattern mit großem Erfolg eingesetzt. Die Hauptwirkung des Klasse-III-Antiarrhythmikums ist die Verlängerung des Aktionspotenzials und der Refraktionszeit (Übersicht bei Paul u. Guccione [9]). Das Medikament wird langsam resorbiert und zeigt nach oraler Aufnahme eine niedrige und variable Bioverfügbarkeit. Die größte Anreicherung des Medikaments findet sich im Herzen (10-bis 50-mal so hoch wie der Plasmaspiegel). Des Weiteren reichert sich Amiodaron v. a. in Fett, Leber und Lunge an. Es wird zu über 90% in der Leber metabolisiert. Die Metabolisierung erfolgt wie bei anderen Medikamenten bei Kindern schneller als bei Erwachsenen. Die Halbwertszeit variiert zwischen 8 und 107 Tagen. Bis zum Erreichen eines therapeutischen Wirkspiegels bzw. eines antiarrhythmischen Effekts dauert es einige Tage bis zu 3 Wochen. Umgekehrt ist nach Absetzen des Medikaments noch nach Tagen bis Wochen ein therapeutischer Effekt desselben zu erwarten. Die Substanz wird bei Kindern gewöhnlich mit einer Dosierung zwischen 5 und 25 mg/kg KG eingesetzt. Nebenwirkungen einer Amiodarontherapie sind relativ unabhängig vom Amiodaronblutspiegel. Sie sind bei Kindern insgesamt seltener als bei Erwachsenen und zudem häufiger bei älteren als bei jüngeren Kindern beobachtet worden [6]. Development of an acute pancreatitis and hepatopathy during amiodarone therapyAbstract Case report. We report a case of a 4 years old girl with ectop atrial tachycardia who developed an acute pancreatitis and hepatopathy during amiodarone therapy. Conclusion. With this case we want point out that these side effects are possible during amiodarone therapy of children.
58 children were admitted to a prospective randomized leukemia induction and CNS-prophylaxis three different protocols were followed for maintenance. A (n = 20): 6-MP (50 mg/m2) p.o. daily + MTX (20-30 mg/m2) p.o. weekly; B (n = 20): 6-MP (50 mg/m2) p.o. daily + MTX (75-150 mg/m2) i.v. every two weeks; C (n = 18): 6-MP (50 mg/m2) p.o. daily + alternating 8-week-courses of four biweekly i.v. injections of MTX (75-150 mg/m2) and four biweekly i.v. injections of Cyclo (600 mg/m2). After all patients have been followed for at least 48 months, the rates of continuous complete remission are 42% in protocol A, 63% in protocol B, and 29% in protocol C. No encephalopathies have been observed with regimen B.
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