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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Moving Towards New Therapies for Fabry Disease
Fabry disease is a multi-system lysosomal storage disorder. As it is caused by an enzyme deficiency, enzyme replacement therapy is the standard treatment option. To overcome some of the issues with this strategy, alternatives are being explored through a collaborative effort involving researchers…
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A new biomarker function for a long-known hormone
Adiponectin is a hormone with well-known relevance to cardiac and renal function. As Fabry disease (FD), a rare metabolic disorder, often manifests with cardiac and/or renal symptoms, researchers at CENTOGENE examined a potential link to adiponectin. Their finding of plasma adiponectin levels to…
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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…