9 Result(s)
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Martine T. P. Besouw
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Article
Open AccessFlucloxacillin decreases tacrolimus blood trough levels: a single-center retrospective cohort study
Tacrolimus and everolimus are widely used to prevent allograft rejection. Both are metabolized by the hepatic cytochrome P450 (CYP) enzyme CYP3A4 and are substrate for P-glycoprotein (P-gp). Drugs influencing ...
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Article
Open AccessBartter and Gitelman syndromes: Questions of class
Bartter and Gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. They are caused by mutations in at least 7 genes involved in the reabsorption ...
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First Successful Conception Induced by a Male Cystinosis Patient
Cystinosis is a rare autosomal recessive lysosomal storage disease characterized by multi-organ cystine accumulation, leading to renal failure and extra-renal organ dysfunction. Azoospermia of unknown origin i...
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Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children
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Clinical and molecular aspects of distal renal tubular acidosis in children
Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated ...
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Article
Management dilemmas in pediatric nephrology: Cystinosis
Cystinosis is a rare, inherited autosomal recessive disease caused by the accumulation of free cystine in lysosomes. It is treated by the administration of cysteamine, which should be monitored by trough white...
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Article
Detailed studies of growth hormone secretion in cystinosis patients
Cystinosis is an autosomal recessive disorder characterized by intralysosomal cystine accumulation. Growth retardation is more pronounced in cystinosis than in other chronic kidney diseases and is mostly not c...
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Article
Open AccessNon-invasive measurements of atherosclerosis in adult cystinosis patients
Cystinosis is characterized by intralysosomal cystine accumulation, causing end stage renal disease around 10 years of age if not treated with cysteamine. Cystine accumulation in blood vessels might increase a...
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Article
Open AccessGrowth hormone producing prolactinoma in juvenile cystinosis: a simple coincidence?
Juvenile cystinosis was diagnosed in a patient who presented with severe headache attacks and photophobia. Treatment with oral cysteamine and topical cysteamine eye drops was started. One-and-a-half years late...
