Hildegard Zappel

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Cystinuria is a hereditary disorder of cystine and dibasic amino acid transport across the luminal membrane of renal tubules and intestine, resulting in recurrent nephrolithiasis. While mutations in the SLC3A1 gene cause type I cystinuria, patients with non-type I cystinuria carry mutations in the SLC7A9 gene. Both gene products form the renal amino acid(More)
Fever of unknown origin is defined as a temperature above 39.0 degrees C together with a white blood cell count > or = 15,000 mm-3, the duration of fever exceeding 2 weeks and a correct diagnosis not being obtained in the first week of hospitalization. In neonates and infants with fever of unknown origin, the localization of the infectious focus is often(More)
BACKGROUND Single ectopic ureters are a rare malformation in children. Therapy consists of ureteral reimplantation. However, in case of bilateral single ectopic ureters, subsequent malformation of the bladder trigone and bladder neck may result in additional voiding dysfunction, and ureteral reimplantation alone may not solve the urologic problems. (More)
AIM Forty children suffering from congenital primary permanent hypothyroidism were studied to determine the diagnostic impact of 123I scintigraphy in comparison to laboratory findings and ultrasonography. METHODS In all patients 123I scintigraphy was performed after intravenous administration of 3.7 MBq 123I. If accumulation of the radiotracer in thyroid(More)
Fragestellung. Bisher gebräuchliche Substanzen in der endoskopischen Therapie des vesikoureteralen Refluxes wie Teflon, Silikon und bovines Kollagen sind hinsichtlich ihrer Biokompatibilität problematisch. Deshalb wurde der Einsatz von Dextranomermikrosphären (Deflux) untersucht. Methode und Patienten. Die endoskopische Therapie mit Deflux wurde bei 29(More)
Off-label drug use in paediatrics is associated with an increased risk of adverse drug reactions. Any risk–benefit analysis has to be based on value judgments that should include parents' views. However, nothing is known so far about the parents' perspective on this critical issue. Therefore, a quantitative survey with parents of healthy and chronically ill(More)
In 180 children (87 children belonging to a control group, 68 with fever of non-renal origin, and 25 with pyelonephritis) albumin and immunoglobulin G (markers for glomerular dysfunction), alpha-1-microglobulin and beta-NAG (markers for proximal tubular dysfunction) and apolipoprotein A1 (marker of "postrenal' dysfunction) were measured in second-voided(More)
AIM Thirty eight children suffering from congenital primary permanent hypothyroidism were studied to determine the diagnostic impact of 123I scintigraphy in comparison to laboratory findings and ultrasonography. METHODS In all patients 123I scintigraphy was performed after intravenous administration of 3.7 MBq 123I. If accumulation of the radiotracer in(More)
Neonatal-onset multisystem inflammatory disease (NOMID) is due to mutations in the CIAS1 gene. We describe the case of a 5-year-old boy with neonatal onset of urticaria-like rash, chronic fever, laboratory findings of systemic inflammation, hepatosplenomegaly, and chronic CNS inflammation associated with sensorineural deafness. Sequence analysis of exon 3(More)
Juvenile systemic lupus erythematosus is a rare multisystemic autoimmune disease with variable clinical manifestations, and disease onset before 16 years of age. Patients younger than 5 years are rarely affected and the age of onset may contribute to the course of disease in terms of clinical presentation, organ involvement, and serological findings. Here,(More)