Sergio Camilo Lopez-Garcia

Monoallelic IFT140 Variants Causing Childhood-Onset Autosomal Dominant Polycystic Kidney Disease

Joshua D Griffiths, Grace Ehidiamhen, Sergio Camilo Lopez-Garcia, Rachel Hubbard et autres

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The pathophysiology of distal renal tubular acidosis

Carsten A. Wagner, Robert J. Unwin, Sergio Camilo Lopez-Garcia, Robert Kleta et autres

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Renal Tubular Acidosis

Detlef Böckenhauer, Sergio Camilo Lopez-Garcia, Stephen B. Walsh

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Experience from a Single Centre Following a Large Cohort of Children with Cystinuria (1996-2019)

Sergio Camilo Lopez-Garcia, Naima Smeulders, Wesley Hayes, Alexander Cho et autres

Background: Cystinuria is a rare monogenic disorder accounting for 5-10% of all paediatric urolithiasis cases. This study reviews epidemiologic, clinical and management data of a large, single centre cohort of cystinuric children. Methods: Respective data collection from children with cystinuria between June …

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Outcomes of paediatric kidney transplant recipients using the updated 2013/2017 Banff histopathological classification for antibody-mediated rejection

Evgenia Preka, Thivya Sekar, Sergio Camilo Lopez-Garcia, Olivia Shaw et autres

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MO001THE EUROPEAN DRTA REGISTRY: AN INITIAL DATA ANALYSIS*

Detlef Böckenhauer, Francesco Emma, Amina Talhi, Svetlana Papizh et autres

Abstract Background and Aims Distal renal tubular acidosis (dRTA) is a rare disorder characterised by an inability of the distal tubule to secrete acid, leading to metabolic acidosis. Clinical consequences typically include hypokalaemia, hypercalciuria with nephrocalcinosis and/or urolithiasis, as well as bone …

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Distal renal tubular acidosis: ERKNet/ESPN clinical practice points

Francesco Trepiccione, Steven Walsh, Gema Ariceta, Olivia Boyer et autres

Distal renal tubular acidosis (dRTA) is characterized by an impaired ability of the distal tubule to excrete acid, leading to metabolic acidosis. Associated complications include bone disease, growth failure, urolithiasis and hypokalaemia. Due to its rarity, there is limited evidence to guide …

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Renal Tubular Acidosis

Detlef Böckenhauer, Sergio Camilo Lopez-Garcia, Stephen B. Walsh

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Treatment and long-term outcome in primary nephrogenic diabetes insipidus

Sergio Camilo Lopez-Garcia, Mallory L. Downie, Ji Soo Kim, Olivia Boyer et autres

BACKGROUND: Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome. METHODS: Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form. RESULTS: Data were collected on 315 …

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Inherited Tubulopathies of the Kidney

Mallory L. Downie, Sergio Camilo Lopez-Garcia, Robert Kleta, Detlef Böckenhauer

The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an orchestra of proteins, directly …

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Treatment and long-term outcome in primary distal renal tubular acidosis

Sergio Camilo Lopez-Garcia, Francesco Emma, Stephen B. Walsh, Marc Fila et autres

BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome. METHODS: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data …

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Long-Term Outcome and Treatment Practices in Distal Renal Tubular Acidosis

Sergio Camilo Lopez-Garcia, Francesco Emma, Stephen B. Walsh, Marc Fila et autres

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