Markus Josef Kemper

Health-Related Quality of Life in Children with X-Linked Hypophosphatemia Treated with Burosumab: Real-World Data from a German-Swiss Study

Ineke Böckmann, Martin Klein, Helena Mutze, Mirko Rehberg et autres

Burosumab is effective in improving rickets in children with X-linked hypophosphatemia (XLH). Predictors of health-related quality of life (HRQoL) in pediatric XLH patients treated with burosumab are unknown. In this cross-sectional analysis of a prospective binational observational study, we investigated HRQoL in …

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7.5. Urinary tract infections

Ulrike John-Kroegel, Markus Josef Kemper

Verwirrte Zilien – Zystennieren und hepatobiliäre Beteiligung

Markus Josef Kemper, Florian Brinkert

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Timing and Modality of Kidney Replacement Therapy in Children and Adolescents

Julia Thumfart, Steffen Wagner, Marietta Kirchner, Karolis Ažukaitis et autres

Introduction: The choice and timing of kidney replacement therapy (KRT) is influenced by clinical factors, laboratory features, feasibility issues, family preferences, and clinicians' attitudes. We analyzed the factors associated with KRT modality and timing in a multicenter, multinational prospective pediatric cohort study. …

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Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years

Malina Brügelmann, Sophia Müller, Alina Verena Bohlen, Katharina Hohenfellner et autres

BACKGROUND: Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder, mostly and often firstly affecting the kidneys, together with impaired disharmonious growth and rickets, eventually resulting in progressive chronic kidney disease (CKD). With the introduction of cysteamine therapy, most pediatric patients …

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Favorable Outcome After Single-kidney Transplantation From Small Donors in Children: A Match-controlled CERTAIN Registry Study

Raphael Schild, Karla Carvajal Abreu, Anja Katrin Büscher, Nele Kirsten Kanzelmeyer et autres

BACKGROUND: Kidney transplantation (KTx) from small donors is associated with inferior graft survival in registry studies, whereas single-center studies show favorable results. METHODS: We compared 175 pediatric KTx from small donors ≤20 kg (SDKTx) with 170 age-matched recipients from adult donors (ADKTx) …

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Volume expansion mitigates Shiga toxin-producing E. coli-hemolytic uremic syndrome in children

Johannes Böckenhauer, Raphael Schild, Markus Josef Kemper, Thomas Henne et autres

BACKGROUND: Shiga toxin-producing E. coli-hemolytic uremic syndrome (STEC-HUS) is associated with high morbidity and relevant mortality. Previous small studies showed that volume expansion could improve the course and outcome of STEC-HUS. The aim of this single-center study was to evaluate the effect …

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Health-related Quality of Life of Children with X-linked Hypophosphatemia in Germany in the Burosumab Era

Martin Klein, Michael Obermaier, Helena Mutze, Sophia Maria Wilden et autres

Abstract Background X-linked hypophosphatemia (XLH) is a rare inherited phosphate-wasting disorder associated with bone and dental complications. Health-related quality of life (HRQoL) is reduced in XLH patients on conventional treatment with phosphate supplements and active vitamin D, while information on patients treated …

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Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants

Sophia Müller, Rika Kluck, Celina Jagodzinski, Malina Brügelmann et autres

BACKGROUND: Infantile nephropathic cystinosis (INC) is a systemic lysosomal storage disease causing intracellular cystine accumulation, resulting in renal Fanconi syndrome, progressive kidney disease (CKD), rickets, malnutrition, and myopathy. An INC-specific disproportionately diminished trunk length compared to leg length poses questions regarding the …

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P301 Step-wise introduction of elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis and liver cirrhosis Child-Pugh A or B using clinical- and therapeutic drug monitoring: a case series

Steffie E. M. Vonk, Rianne Lub, Els J.M. Weersink, Ulrich H. Beuers et autres

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#5036 THE OUTCOME OF LUMASIRAN TREATMENT IN 10 PAEDIATRIC PATIENTS WITH PRIMARY HYPEROXALURIA TYPE 1

Sina Saffe, Anja Katrin Büscher, Katja Doerry, Sandra Habbig et autres

Abstract Background and Aims In primary hyperoxaluria type 1 (PH 1) a rare enzymatic defect in the liver leads to a hepatic overproduction of oxalate. The resulting hyperoxaluria can cause nephrocalcinosis, urolithiasis and renal failure. Conservative treatment options such as hyperhydration, citrate …

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Long-term outcome after combined or sequential liver and kidney transplantation in children with infantile and juvenile primary hyperoxaluria type 1

Sebastian Loos, Markus Josef Kemper, Kaja Schmaeschke, Uta Herden et autres

Introduction Combined or sequential liver and kidney transplantation (CLKT/SLKT) restores kidney function and corrects the underlying metabolic defect in children with end-stage kidney disease in primary hyperoxaluria type 1 (PH1). However, data on long-term outcome, especially in children with infantile PH1, are …

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