A5066253186- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Renal and related cancers
- Pediatric Urology and Nephrology Studies
- Hedgehog Signaling Pathway Studies
- Pediatric Hepatobiliary Diseases and Treatments
- Liver Disease Diagnosis and Treatment
- Organ Transplantation Techniques and Outcomes
- Parathyroid Disorders and Treatments
- Ultrasound in Clinical Applications
- Biomedical Research and Pathophysiology
- Olfactory and Sensory Function Studies
- Hepatitis Viruses Studies and Epidemiology
- Asthma and respiratory diseases
- Neonatal Health and Biochemistry
- Cystic Fibrosis Research Advances
- Renal Transplantation Outcomes and Treatments
- Congenital Diaphragmatic Hernia Studies
- Complement system in diseases
- Botulinum Toxin and Related Neurological Disorders
- Radiology practices and education
- Muscle and Compartmental Disorders
- Liver Diseases and Immunity
- Vascular anomalies and interventions
- Trigeminal Neuralgia and Treatments
Essen University Hospital
2015-2025
University of Duisburg-Essen
2012-2024
University Hospital Münster
2024
Zentrum für Kinderheilkunde
2017-2024
Sağlık Bilimleri Üniversitesi
2019
Kidney cysts can manifest as focal disease (simple and complex kidney cysts), affect a whole (eg, multicystic dysplastic or cystic dysplasia), bilateral autosomal recessive polycystic [ARPKD] dominant [ADPKD]). In children, opposed to adults, larger proportion of are due genetic diseases HNF1B nephropathy, various ciliopathies, tuberous sclerosis complex), fewer patients have simple acquired disease. The purpose this consensus statement is provide clinical guidance on standardization imaging...
HEV infection appears to be an emerging disease in industrialized countries. The aim of this study was evaluate the prevalence pediatric solid organ transplant recipients. One hundred and twenty-four recipients liver (n = 41) or kidney 83) transplants aged between one 18 yr were screened for anti-HEV IgG antibodies. Patients tested fecal RNA excretion if they showed seropositivity. As a control group, 108 immunocompetent patients without three IgG. seroprevalence 2.4% renal Tx (2/83), 4.9%...
Abstract CLKT and sequential KALT are decided on a case‐by‐case basis in children for special indications such as ARPKD or PH 1. We report 21 who underwent at our hospital between 1998 2013. Eleven were diagnosed with 1 six . Other diagnosis Joubert syndrome (n = 1), nephronophthisis CF hepatocellular carcinoma 1). Children (12 males, nine females) aged 7.8 ± 6.2 yr (range, 10 months to 18 yr) time of transplantation. Average wait was 1.9 0.9 four 2.3 yr). Fifteen patients received dialysis...
IntroductionNephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% end-stage kidney disease (ESKD) in children. Prediction prognosis poses major challenge. We assessed differences survival, impact variant type, and the association clinical characteristics with declining function.MethodsData was obtained from 3 independent sources, namely network early onset cystic diseases registry (n = 105), an online survey sent out European Reference Network Rare Kidney...
The number of children with acute and chronic liver disease is rising. Moreover, involvement may be limited to subtle changes in organ texture especially early childhood some syndromic conditions, such as ciliopathies. Attenuation imaging coefficient (ATI), shear wave elastography (SWE), dispersion (SWD) are emerging ultrasound technologies providing data about attenuation, elasticity, viscosity tissue. This additional qualitative information has been correlated certain pathologies. However,...
Background Hereditary cystic kidney diseases such as nephronophthisis, polycystic disease and Bardet-Biedl syndrome (BBS) are caused by a dysfunction of primary cilia. Cilia involved in variety cellular functions perceptions, with one them being the sense smell. Hyposmia is typical feature found patients BBS. However, reports olfactory other sparse. Here we provide systematic survey on olfaction large cohort displaying genetically determined renal ciliopathies. Methods We performed...
Abstract Background In pediatric hereditary cystic kidney diseases, epithelial cell defects mostly result from rare, autosomal recessively inherited pathogenic variants in genes encoding proteins of the cilia-centrosome complex. Consequences individual gene on function are often difficult to predict and can furthermore depend patient’s genetic background. Here, we studied urine-derived renal tubular cells (URECs) genetically determined, cohorts different comprising recessive polycystic...
<title>Abstract</title> Background Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive ciliopathy with pathogenic variants in at least 26 BBS genes. It affects multiple organs including kidney and liver, however, organ involvement differs widely regarding extent time of first manifestation. Structural renal anomalies are an early feature frequency > 50% end-stage disease (ESKD) cumulates to 25% adolescence. Early-onset hyperphagia-associated obesity another major symptom contributes...
Nephronophthisis (NPH) comprises a heterogeneous group of inherited renal ciliopathies clinically characterized by progressive kidney failure. So far, definite diagnosis is based on molecular testing only. Here, we studied the feasibility NPHP1 and NPHP4 immunostaining nasal epithelial cells to secure accelerate NPH.
Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive ciliopathy with pathogenic variants in 26 BBS genes. It affects multiple organs, including the kidney and liver, varying degrees regarding extent time of first manifestation. Structural renal anomalies are an early feature end-stage disease (ESKD) cumulates to 25% adulthood. Early-onset hyperphagia-associated obesity another major symptom contributes liver pathology, presenting as steatosis/fibrosis. Aim this study evaluation high-end...
This consensus-based guideline was developed by all relevant German pediatric medical societies. Ultrasound is the standard imaging modality for pre- and postnatal kidney cysts should also exclude extrarenal manifestations in abdomen internal genital organs. MRI has selected indications. Suspicion of a cystic disease prompt consultation nephrologist. Prenatal management must be tailored to very different degrees severity. After renal oligohydramnios, we recommend delivery perinatal center....
Small-donor kidneys (≤20 kg donor weight, SDK) are preferably transplanted en bloc in adults. Concerns about thrombotic complications or hyperfiltration hinder their use children, particularly as single grafts. Low centre experience and donor-to-recipient size rated critical regarding outcomes. We evaluated SDK transplantation (SDTx) paediatric recipients at a specialized transplant centre. Between 2008 2018, SDTx was performed 40 children (mean age 5.4 ± 1.4 years, grafts n = 38, weight ≤10...
Rhabdomyolysis, which is defined as the degradation and disintegration of striated muscle, an acute possibly fatal clinical syndrome. Migratory quail consumption (Coturnism) unusual reported cause rhabdomyolysis. Acute renal failure occurring only a few hours after migratory ingestion presented in our case. A 58-year-old male applied to emergency centre with weakness, muscle pain, nausea, vomiting, decreased darkened urine that started approximately 12 h prior his admittance. While no other...
Purpose: Ultrasound (US) is the preferred imaging modality in pediatrics for diagnostic and therapeutic issues. The absence of radiation constant on-site accessibility make it ideal tool children. However, despite remarkable technical advances resolution applicability, many sophisticated medical questions still require profound expertise examiner often hampering fast decisions particular outside regular working hours. Materials Methods: This single-center study, at a university children`s...
Background Hemolytic uremic syndrome (HUS) is the most common cause of acute kidney injury in children. It mainly caused by Shiga toxin-producing enterohemorrhagic Escherichia coli (EHEC; STEC-HUS) and more rarely uncontrolled complement activation (cHUS). Renal replacement therapy frequently required function recovers majority patients. Ultrasound (US) preferred imaging modality for evaluation any renal failure. The aim this study US diagnostics both HUS types at disease onset course...