Nephrology
Inherited kidney diseases are associated with an increased risk of mortality, cardiovascular morbidity and growth impairment. Genetic testing facilitates the rapid and thorough diagnosis of any inherited kidney disease that is present, allowing you to provide pro-active support and selection of the best treatment and individual care.
Articles on Nephrology
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Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
CENTOGENE considers its global positioning a key aspect for generating truly novel knowledge. The company’s involvement in a recent large-scale epidemiological study in India nicely exemplifies the success of this approach. Upon genetic screening of Indian patients with chronic liver disease, many…
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Childhood Cerebral X-Linked Adrenoleukodystrophy with Atypical Neuroimaging Abnormalities and a Novel Mutation
Childhood cerebral X-linked adrenoleukodystrophy (XALD) typically manifests with symptoms of adrenocortical insufficiency and a variety of neurocognitive and behavioral abnormalities.
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Allgrove Syndrome with Neurological Symptoms
We report a young woman with the clinical picture of Allgrove syndrome in whom neurological symptoms are prominent. It usually presents in the first decade of life with a deficiency of tears, recurrent vomiting and dysphagia due to achalasia, severe hypoglycemic seizures and shock due to adrenal…
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BioAlport – Biomarker for Alport Disease
Alport Syndrome is an inherited disease that primarily affects the glomeruli, the tiny tufts of capillaries in the kidneys that filter wastes from the blood. The disease was first described by an English doctor named A. Cecil Alport.