Alport-syndrome, IUGR, lipid metabolism
Conditions
Interventions
Group 1: Characterize the effects of intrauterine growth restriction (IUGR) and Alport syndrome on the proteome and lipidome in urine and blood to establish proteomic and lipidomic signatures to help
Sponsors
Uniklinik Köln
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: Alport Group: - Confirmed diagnosis of Alport syndrome (via genetic testing or kidney biopsy) - Urine collection and/or blood sampling as part of routine clinical care IUGR Group: - sonographic evidence of placental insufficiency during the pregnancy of the participating child - Birth weight below the 10th percentile - Availability of urine and/or blood samples from one or more time points Control Group: - Urine collection and blood sampling as part of routine clinical care
Exclusion criteria
Exclusion criteria: Alport Group: - Kidney transplantation - Lack of available biological samples IUGR Group: - Pre-existing diabetes mellitus or gestational diabetes in the mother during the pregnancy of the participating child - Pre-existing hypertension or gestational hypertension in the mother during the pregnancy of the participating child - Lack of available biological samples Control Group: - Chronic underlying organic disease (kidney, lung, liver, hematologic, oncologic, rheumatologic) - Acute kidney disease - Fever within the past two weeks (> 38.5 °C) - Chronic or acute infectious disease - Surgical intervention within the past three months - Use of the following medications: - Systemic corticosteroids (i.v. or p.o.) within the past six months - Non-steroidal anti-inflammatory drugs (NSAIDs) within the past four weeks - Systemic therapy with immunosuppressants, chemotherapeutic agents, or immunoglobulins within the past six months - Chronic medication use within the past 12 months - Evidence of impaired renal function: - GFR according to the Schwartz formula 150 mg/g creatinine) - Elevated blood pressure (> 90th percentile adjusted for age, height, and sex) - Abnormalities during the mother’s pregnancy with the participating child: - Birth weight below the 10th percentile - Preterm birth (before 37+0 weeks of gestation) - Placental insufficiency (pathological Doppler findings) - Pre-existing or gestational diabetes mellitus - Pre-existing or gestational hypertension - Preeclampsis - HELLP syndrome - Placental abruption - Any other circumstances that, in the opinion of the study investigators, may impair the scientific validity of the results - Lack of available biological samples
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Investigation of the hypothesis that dysregulated renal lipid metabolism and oxidative stress contribute to the progression of proteinuria and kidney dysfunction in Alport syndrome and predispose children with IUGR to the development of kidney disease or dysfunction | — |
Secondary
| Measure | Time frame |
|---|---|
| Subproject 1 (Alport) Identification of specific metabolic and inflammatory signatures in urine and blood of Alport patients prior to the onset of significant microalbuminuria and kidney dysfunction, in comparison to controls Unbiased approach to identify molecular mechanisms contributing to the progression of proteinuria and kidney dysfunction in Alport patients Subproject 2 (IUGR) Identification of specific metabolic and inflammatory signatures in urine and blood of children with intrauterine growth restriction (IUGR) compared to healthy controls with unimpaired intrauterine development Unbiased approach to identify the molecular mechanisms contributing to the predisposition for the development of proteinuria and kidney dysfunction following IUGR | — |
Countries
Germany
Contacts
Public ContactKai-Dietrich Nüsken
Uniklinik Köln
Outcome results
None listed