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Dent's disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the proximal renal tubules of the kidney. It is one cause of Fanconi syndrome, and is characterized by tubular proteinuria, excess calcium in the urine, formation of calcium kidney stones, nephrocalcinosis, and chronic kidney failure. "Dent's disease" is often used to describe an entire group of familial disorders, including X-linked recessive nephrolithiasis with kidney failure, X-linked recessive hypophosphatemic rickets, and both Japanese and idiopathic low-molecular-weight proteinuria.〔Mayo Clinic, Division of Nephrology and Hypertension, (Mineral Metabolism and Stone Disease )〕 About 60% of patients have mutations in the ''CLCN5'' gene (Dent 1), which encodes a kidney-specific chloride/proton antiporter, and 15% of patients have mutations in the ''OCRL1'' gene (Dent 2).〔S. Karger AG, Basel, (Truncating Mutations in the Chloride/Proton ClC-5 Antiporter Gene in Seven Jewish Israeli Families with Dent’s 1 Disease )〕 ==Signs and symptoms== Dent's disease often produces the following signs and symptoms: * Extreme thirst combined with dehydration, which leads to frequent urination * Nephrolithiasis (kidney stones) * Hypercalciuria (high urine calcium - >300 mg/d or >4 mg/kg per d) with normal levels blood/serum calcium) * Aminoaciduria (amino acids in urine) * Phosphaturia (phosphate in urine) * Glycosuria (glucose in urine) * Kaliuresis (potassium in urine) * Hyperuricosuria (excessive amounts of uric acid in the urine) * Impaired urinary acidification * Rickets In a study of 25 patients with Dent's disease, 9 of 15 men, and one of 10 women suffered end-stage kidney disease by the age of 47. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Dent's disease」の詳細全文を読む スポンサード リンク
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