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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Bardet Biedl
Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by retinal dystrophy, obesity, renal abnormalities, genital abnormalities, postaxial polydactyly, and learning difficulties. To date, mutations in more than 20 different genes have been described as being responsible…
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Alport syndrome
Alport syndrome (ATS) is a rare disease caused by genetic mutations in one of the type IV collagen genes that encode connective tissue proteins localized within basement membranes of the kidneys, ears, and eyes. Thus, the disease is characterized by renal, cochlear, and ocular involvement.
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Pancreatitis
There are a variety of disorders of the pancreas including acute pancreatitis, chronic pancreatitis, hereditary pancreatitis, and pancreatic cancer. Signs and symptoms of pancreatitis may vary, depending on the disease. Hereditary pancreatic diseases are inflamatory diseases of pancreas, most often…
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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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Kallmann syndrome and hypogonadotropic hypogonadism
Kallmann syndrome is a developmental genetic disorder characterized by delayed or absent puberty and impaired sense of smell and it belongs to isolated gonadotropin-releasing hormone deficiencies. Deficient hypothalamic gonadotropin-releasing hormone (GnRH) secretion underlies the markedly abnormal…