Kinderurologie und Fehlbildungen

Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence

Renal tubular dysgenesis (RTD) is a disorder characterized by neonatal renal failure and regular gross renal architecture, although the histological features of immature and shortened proximal tubules lead to neonatal death. The pathogenesis of this condition includes a congenital familial condition, a twin-twin transfusion syndrome, and an angiotensin-converting enzyme inhibitor intake by the mother. The clinical picture shows an association with oligohydramnia, pulmonary hypoplasia, and skull ossification defects. In the present paper, we report the occurrence of RTD in three infants of a consanguinous couple and compared our data with those of the literature. Our data confirm that late s…

Technetium-99m mercaptoacetyltriglycine clearance: reference values for infants and children.

Six hundred and thirty-nine clearance studies performed in children aged 7 days to 19 years utilizing technetium-99m mercaptoacetyltriglycine (MAG 3) were retrospectively analysed. Standardized conditions for the investigation included: parenteral hydration (60 ml/hxm2 body surface) in addition to normal oral fluid intake, weight-related dose of99mTc-MAG 3 (1 MBq/kg body weight, minimum 15 MBq) and calculation of clearance according to Bubeck et al. Of the 513 children, 169 included in this analysis could be classified as “normal” with regard to their renal function. Normal kidney function was judged by the following criteria: normal GFR for age, normal tubular function (absence of proteinu…

How to Name Papillary Tumors of the Bladder in Children: Transitional Cell Carcinoma or Papillary Urothelial Neoplasm of Low Malignant Potential?

Urinary bladder malignancies are uncommon in children. Approximately 80 children with papillary carcinoma have been described to date, presenting as papillary neoplasms of both low grade and low stage. On the basis of the 1973 World Health Organization classification, tumors were classified as transitional cell carcinoma of the urinary bladder (TCCB). Owing to more detailed histologic criteria, this term has been replaced by papillary urothelial neoplasm of low malignant potential and low-grade carcinoma of the urinary bladder in the World Health Organization-International Society of Urologic Pathology consensus classification system of urothelial neoplasms 2004. Nevertheless, TCCB still re…

Familial Mediterranean fever as an unusual cause of acute scrotum.

Correct preoperative diagnosis is the crucial step in the management of acute scrotum. With the adjunct of color Doppler ultrasound, torsion of testicular appendages, epidydimitis and orchitis as the more common nonsurgical causes are differentiated reliably from testicular torsion or incarcerated inguinal hernia. Less frequently, acute scrotal swelling is the initial symptom of systemic disorders. Leukemic infiltration of the testis or scrotal involvement in vasculitis

Kinder und Jugendliche mit neurogener Blasenfunktionsst�rung

After the failure of conservative treatment in patients with neurogenic bladders, urinary diversion is a viable compromise between the urologist's concerns and the patient's desire, as the upper urinary tract can be protected in the long-term and high continence rates can be provided. This can be achieved with an acceptable complication rate. Our indications for orthotopic bladder augmentation or substitution involve patients with a good orthopedic condition and mobility, who find it easy to perform CISC through the urethra. A continent umbilical stoma offers a good alternative in obese, immobile or wheelchair bound patients. The serous lined extramural tunnel technique has proven to be sup…

Vitamin metabolism in patients with a Mainz pouch I: long-term followup.

We assessed whether creation of the Mainz pouch I, which requires 24 to 36 cm. of terminal ileum and 12 cm. of ascending colon including the ileocecal valve, leads to metabolic disturbances.In 137 patients the levels of vitamins A, B1, B2, B6, B12, D and E, folic and bile acids, ammonia, and intracorpuscular vitamin B12 and folic acid were evaluated and a red blood count was performed. Patients were divided into children and adults, and into 3 groups according to number of years after surgery (2 or less, more than 2 to 4 and more than 4).In all patients the levels of vitamins A, B1, B2, B6, D and E, folic and bile acids, and ammonia as well as red blood count were within normal ranges. In t…

Autoimmune inflammation, such as in rheumatoid arthritis, is characterized by activated Th1 cells without sufficient Th2 differentiation that might downmodulate the chronic immune response. Delineation of the mechanisms that control T-cell differentiation is therefore of major importance for the understanding of the pathogenesis of autoimmune diseases. The transcription factor GATA-3 has been implicated in regulating Th2 cell differentiation in murine T cells in vitro, but its role in vivo and, in particular, in human T-cell differentiation is currently unknown. To dissect the role of GATA-3 in human T-cell differentiation and T-cell-mediated effector functions, we used the unique opportuni…

Social integration, sexual behavior and fertility in patients with bladder exstrophy--a long-term follow up.

After primary bladder closure or urinary diversion, other factors apart from the reconstruction itself gain importance for individuals with the exstrophy-epispadias complex: social integration and, after reaching puberty, sexuality and fertility. Between 1968 and July 1994 115 patients with bladder exstrophy or incontinent epispadias underwent surgery at our institution. A total of 104 patients could be followed, 2 of whom died in the meantime. Of the remaining 102 patients 48 attend school, 4 are in college, 40 have completed or are currently undergoing vocational training, 3 are unemployed, 1 lives in a therapeutic centre and 6 are younger than 6 years of age. A total of 95% of the patien…

Long-Term Followup Of 158 Young Adults Surgically Treated For Vesicoureteral Reflux In Childhood: The Ongoing Risk Of Urinary Tract Infections

We recorded urinary tract infections in the long term after surgical reflux correction.A total of 158 of 189 patients (160 females and 29 males) who were followed in 1985, an average of 10.8 years after reflux surgery were contacted again in 1995. At that time median patient age was 26 years (range 15.7 to 38.8) and the average period of observation was 20.3 years (range 13.4 to 26).In 82% of the patients febrile and in 18% afebrile symptomatic urinary tract infections had developed preoperatively. In the first 10-year period after operation 46% of patients continued to have symptomatic urinary tract infections compared with 52% in the second 10-year interval. In the 2 periods the incidence…

Klinischer Verlauf und Narbenentwicklung beim operierten vesico-renalen Reflux in einer Langzeitbeobachtung

62 patients (14 boys, 48 girls) representing 85 refluxive renal units (Grade 2-4) were investigated after successful operation for the development of further urinary tract infections (UTI) and renal scars (RS). The mean follow-up was 9.3 years. With the exception of one boy, none of the male patients developed any UTI or new RS. A similar result was obtained for about 45% of the girls. These two groups of patients presented with high-grade reflux before surgery. The remaining female patients (about 55%), however, presenting with lower-grade reflux before surgical treatment, developed further UTI as well as new RS despite surgical correction of their reflux. Investigations on the capacity of…

Long-Term Follow-Up of Children with Surgically Treated Vesicorenal Reflux: Renal Growth

Renal growth after successful surgical correction of vesicoureterorenal reflux (VUR) in childhood was observed in 137 female and 22 male patients over a mean follow-up period of 10.5 years. The renal parenchymal area was determined using a compensatory planimeter. For each measured value, the standard deviation score (SDS) was calculated by comparison with a normal population. On average, renal growth after reflux operation nearly paralleled the expected normal growth rate. Scarred kidneys had a worse growth prognosis than refluxing renal units (RU) without renal damage, growth retardation being correlated with the degree of pyelonephritic changes. The diminished growth rate of scarred kidn…

Rapid detection of an Angiotensin Type 2 Receptor Gene variant: no evidence for linkage and association with primary vesicoureteral reflux

Primary vesicoureteral reflux (VUR) affects approximately 1−2% of the general population and is a common cause of end-stage renal failure in children. VUR appears to have a genetic basis and several loci including the Angiotensin Type 2 Receptor Gene (AGTR2) on the X chromosome have been suggested. Using single-strand conformation analysis (SSCA) we typed 103 DNA samples from 17 families with two or more affected individuals for the presence of a splice site mutation in the AGTR2 gene. Linkage analysis revealed a parametric LOD score of −3.977 and a NPL-score of −6,522 by affected-only analysis. Our family-data do not support linkage of VUR to the AGTR2.

Leitlinien international – Diagnose und Management fieberhafter Harnwegsinfektionen im Säuglings- und Kleinkindesalter – AAP-Guidelines 2011

Urinary diversion in children and young adults using the Mainz Pouch I technique

Objectives To determine the late complications and consequences for renal function, vitamin and acid-base metabolism after application of the Mainz Pouch I (MZP-I) technique in children and young adults. Patients and methods To November 1994, the MZP-I procedure was carried out in 463 patients at our institution, 91 of whom were children and adolescents (≤20 years old) using bladder augmentation in 21 and a continent cutaneous stoma in 70. A minimum follow-up of 1 year was possible in 87 patients or 163 renal units (RUs) with a mean of 5.5 years (range 1–10.5). Results At the last examination, 23 of 55 (42%) pre-operatively dilated RUs had improved, 131 of the 163 RUs (80%) were stable and …

A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature

There are two forms of diabetes insipidus, central (neurohypophyseal), and nephrogenic, caused by pathogenic variants in the AVP gene and the AVPR2 or AQP2 genes, respectively. We report on a four-generation family, seven individuals had central diabetes insipidus (CDI) and the female index patient seen from age 16 to 26 years had (mild) nephrogenic diabetes insipidus. In her father with CDI, a known pathogenic heterozygous AVP variant c.232_234del p.(Glu78del) was identified, confirming the diagnosis of CDI in him and the other affected family members. In the proband, molecular analysis disclosed a novel heterozygous AVPR2 gene variant, c.962A > T p.(Asn321Ile) and an extremely skewed X-in…

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA

Contains fulltext : 248375.pdf (Publisher’s version ) (Closed access) BACKGROUND: Gitelman syndrome is the most frequent hereditary salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. Gitelman syndrome is caused by biallelic pathogenic variants in SLC12A3, encoding the Na(+)-Cl(-) cotransporter (NCC) expressed in the distal convoluted tubule. Pathogenic variants of CLCNKB, HNF1B, FXYD2, or KCNJ10 may result in the same renal phenotype of Gitelman syndrome, as they can lead to reduced NCC activity. For approximately 10 percent of patients with a Gitelman syndrome phenotype, the genotype is unknown. METHODS: We identified mitochondrial DNA (mtDNA) variants in th…

Long-term follow-up of children with surgically treated vesicorenal reflux: postoperative incidence of urinary tract infections, renal scars and arterial hypertension.

With a mean follow-up of 10.8 years, 160 female and 29 male patients were investigated after successful correction of vesicoureterorenal reflux. All patients suffered from urinary tract infection (UTI) preoperatively, while postoperatively 42% of the patients developed further UTIs but with a significantly diminished rate of febrile infections. In comparison to a group of patients without postoperative UTI (n = 16), the uroepithelial cells of those patients with a high infection rate after reflux correction showed a significantly lower bacterial growth suppression (n = 37). Renal scars were found in 22% of the investigated renal units with operated ureters (n = 211). Of the preoperatively u…

Presentation, Management and Long-Term Outcome of Ureteropelvic Junction Obstruction in Duplex Kidneys.

Ureteropelvic junction obstruction in association with a duplex collecting system is a rare but challenging upper urinary tract pathology. We report our 21-year experience with this anomaly in terms of presentation, diagnostic evaluation and management.We retrospectively identified all patients with ureteropelvic junction obstruction in a duplex collecting system between 1991 and 2012. We reviewed each case for presenting symptoms, anatomy and management. Median followup was 10.8 years (range 2 to 22).Ureteropelvic junction obstruction in duplex kidneys was diagnosed in 21 patients. Ten patients presented with clinical symptoms such as flank pain and urinary tract infection but 11 were asym…

Refluxdiagnostik – Stellenwert des Miktionszystourethrogramms

ZusammenfassungDas radiologische Miktionszystourethrogramm gilt in der Kinderurologie seit Langem als Goldstandard zur Refluxprüfung. In den zurückliegenden Jahrzehnten haben sich daneben zusätzliche kontrastmittelgestützte Verfahren wie die sonografische Refluxprüfung oder die Radionuklidzystografie etabliert. Ihr Hauptindikationsgebiet liegt in der Reflux-Diagnostik nach Pyelonephritis im Säuglings- und Kindesalter. Für die Auswahl der geeigneten Methode spielen klinische Fragestellung, Verfügbarkeit, ökonomische Aspekte, personeller und zeitlicher Aufwand und das Ziel der geringstmöglichen Strahlenbelastung bei maximalem Informationsgehalt eine Rolle. Moderne Strategien streben unabhängi…

Rectosigmoid Pouch (Mainz Pouch II) in Children

Continent anal urinary diversion is a therapeutic option in bladder exstrophy. We report our long-term results with the rectosigmoid pouch (Mainz pouch II), a modification of the classic ureterosigmoidostomy.A total of 38 children with a mean age of 5 years (range 0.5 to 17) underwent a Mainz pouch II procedure between 1991 and 2004. Most patients (33) had bladder exstrophy or incontinent epispadias. In 14 children (37%) urinary diversion was performed after failed primary reconstruction. In 6 children conversion was performed from an incontinent type of urinary diversion. Renal function, continence and metabolic changes were analyzed. A total of 35 children were followed for a mean of 112 …

MP-16.10