Publications by authors named "Ingo Franke"

Background: Nephrotic syndrome (NS) is one of the most frequent occurring chronic kidney diseases in childhood, despite its rarely occurrence in the general population. Detailed information about clinical data of NS (e.g.

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Background: Long-term outcomes of children with nephrotic syndrome have not been well described in the literature.

Methods: Cross-sectional study data analysis of n = 43 patients with steroid-sensitive (SSNS) and n = 7 patients with steroid-resistant (SRNS) nephrotic syndrome were retrospectively collected; patients were clinically examined at a follow-up visit (FUV), on average 30 years after onset, there was the longest follow-up period to date.

Results: The mean age at FUV was 33.

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Interviewing a child of a suspected abuse (physical abuse, sexual abuse, neglect, Munchausen-by-proxy syndrome) is subject to complex risks of suggestion and distortion. The use of a standardized interview protocol as part of the investigation can significantly increase the scope and validity of the child's report in different settings (for example, pediatrics, child welfare services, court).In this paper, the interview protocol provided by the National Institute of Child Health and Human Development (NICHD) in its revised and complete version is presented in German and made available for free clinical use in the Appendix.

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Doctors and especially paediatricians in clinics and private practices are often the first professionals to be confronted with the suspicion of a child endangerment (sexual abuse, physical abuse, neglect, Munchausen-by-proxy syndrome). They thus play a key role in the early assessment and clarification of suspicion and setting the course for the further interdisciplinary procedure.The clinical investigation of a suspicion is a diagnostic and communicative challenge.

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Background: The incidence of childhood nephrotic syndrome (NS) in Germany is not well known.

Methods: An ESPED-based nationwide collection of epidemiological data of children in 2005 and 2006.

Result: The mean age of NS at onset was 5.

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Alpha-aminoadipic and alpha-ketoadipic aciduria is an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation. To date, DHTKD1 mutations have been reported in two alpha-aminoadipic and alpha-ketoadipic aciduria patients. We have now sequenced DHTKD1 in nine patients diagnosed with alpha-aminoadipic and alpha-ketoadipic aciduria as well as one patient with isolated alpha-aminoadipic aciduria, and identified causal mutations in eight.

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Objectives: To determine the pediatric reference interval for serum beta-trace protein (beta-TP) and to compare beta-TP with established LMW markers of GFR, i.e., cystatin C (CysC) and beta(2)-microglobulin (beta(2)-M).

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Background: Dent disease is an X-linked tubulopathy frequently caused by mutations affecting the voltage-gated chloride channel and chloride/proton antiporter ClC-5. A recent study showed that defects in OCRL1, encoding a phosphatidylinositol 4,5-bisphosphate 5-phosphatase (Ocrl) and usually found mutated in patients with Lowe syndrome, also can provoke a Dent-like phenotype (Dent 2 disease).

Methods: We investigated 20 CLCN5-negative males from 17 families with a phenotype resembling Dent disease for defects in OCRL1.

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Objective: Posterior urethral valves (PUV) are a common cause of lower urinary tract obstruction. Renal failure occurs in approximately one third of the cases. It is debated whether urinoma formation is a protective mechanism to reduce pressure-related impairment of renal function.

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Renal abscess is uncommon in children. In a few cases, ascending infection and/or hematogenous spread have been outlined as pathophysiologic mechanisms in published studies. We report on a 7-month-old female infant who was hospitalized with a high fever.

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