Genetics of Tubulopathies
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (30 November 2019) | Viewed by 18420
Special Issue Editors
2. Renal Unit, Great Ormond Street Hospital for Children, London WC1N 3JH, UK
Interests: inherited kidney diseases; tubulopathies; genetics; precision medicine; renal physiology
Interests: cystic kidney disease; tubulopathies; ciliopathies; cilia; renal stone disease; end-stage renal failure
Special Issue Information
Dear Colleagues,
One of the key tasks of the kidney is homeostasis, the maintenance of the extracellular fluid in which all cells are bathed. Ensuring the proper composition and volume of this “milieu interieur” or internal environment is critical for the function of all cells. Homeostasis is mainly provided by the renal tubules and involves a large number of different transport proteins and regulators. Defects in these tubular transport processes are collectively referred to as tubulopathies. The associated clinical phenotype can vary enormously in severity: from minor abnormalities in urine composition, to kidney stones, hypertension, chronic kidney disease, or life-threatening acid-base and electrolyte abnormalities. Genetic investigations into these rare disorders have clarified the aetiology of most tubulopathies and provided tremendous insights into their underlying pathophysiology.
This Special Issue focuses on the genetics and genomics underlying the diseases of tubulopathy, to better understand the disease causes and mechanisms and to identify and develop better treatments. We are pleased to welcome submissions of reviews, research articles, and short communications focused on the genetics of this disease.
Prof. Detlef Bockenhauer
Prof. John Sayer
Prof. Dr. Rosa Vargas-Poussou
Guest Editors
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Keywords
- Tubulopathies
- Homeostasis
- Acidosis
- Alkalosis
- Electrolyte disorders
- Blood pressure
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