Recent advances in hereditary renal tubular disorders

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  • Miura Kenichiro
    Department of Pediatric Nephrology, Tokyo Women’s Medical University
  • Hattori Motoshi
    Department of Pediatric Nephrology, Tokyo Women’s Medical University

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  • 遺伝性尿細管機能異常症のup to date
  • イデンセイ ニョウ サイカン キノウ イジョウショウ ノ up to date

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Abstract

<p>Recent advances in genetic analysis and development of national and international registries for rare diseases have unraveled genetic abnormalities and clinical characteristics in hereditary renal tubular disorders. In Dent disease and Lowe syndrome, large cohort studies revealed that nephrocalcinosis was not associated with progression of chronic kidney disease. In Bartter syndrome type 3, severe mutations and missense mutations resulting in poor residual conductance were associated with younger age at diagnosis. In Gitelman syndrome, gender and certain mutations were associated with larger required amount of potassium supplementation. In distal renal tubular acidosis, all three known genes of both autosomal dominant and autosomal recessive forms should be candidates for patients with onset in infancy and early childhood. Novel genes responsible for Fanconi syndrome were identified; sodium-phosphate cotransporter NaPi-IIa and an enzyme involved in peroxisomal oxidation. On the other hand, responsible genes have not been identified in substantial proportion of patients with renal tubular disorders, suggesting that factors modulating established molecules regulating water, electrolyte, and acid-base balance may be involved.</p>

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