Publications by authors named "J Brodehl"

Article Synopsis
  • The study focused on the SGLT2 gene, which is responsible for a glucose transporter in the kidneys, and assessed its impact on a condition called renal glucosuria.
  • Mutations in the SGLT2 gene were found in 21 out of 23 analyzed families, with most mutations being unique to individual families; some common mutations were also identified across different ethnic backgrounds.
  • Findings indicate that SGLT2 is crucial for glucose reabsorption in the kidneys, and that renal glucosuria has a codominant inheritance pattern with variability in how it manifests among family members.
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We report a total of 23 novel mutations of the SLC2A2 ( GLUT2) gene in 49 patients with a clinical diagnosis of Fanconi-Bickel syndrome (FBS). Molecular genetic analysis has now been performed in more than 50% of the 109 FBS cases from 88 families that we have been able to locate world-wide since the original report in 1949. In these 49 patients, 33 different SLC2A2 mutations (9 missense, 7 nonsense, 10 frameshift, 7 splice-site) have been detected.

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Objectives: Progressive familial intrahepatic cholestasis (PFIC) usually presents with pruritus, jaundice, hepatomegaly, and growth failure. A group of PFIC is recognized by marked elevation of total serum bile acids, decreased serum apolipoprotein A-1, and high-density lipoprotein, but normal gamma-glutamyltranspeptidase and cholesterol. Although medical therapy generally fails, partial external biliary diversion (DIV) has been used with promising results for cholestasis.

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Cystinuria is an autosomal recessive disorder of the tubular and intestinal resorption of cystine, ornithine. lysine and arginine leading to nephrolithiasis. Three cystinuria types can be distinguished by the mode of inheritance (true recessive or intermediate) and by the pattern of the intestinal amino acid transport.

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In long-standing nephropathic cystinosis complications are observed in various organs. Distal myopathy was first described in detail in 1994. The prevalence was calculated to be 24%.

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