腎不全を伴う X 連鎖性劣性腎結石症 [DS:H02147] デント病 [DS:H00694] X 連鎖劣性低リン血症性くる病 [DS:H02142] 高カルシウム尿症と腎石灰化症を伴う低分子蛋白尿 [DS:H02148]
概要
X-linked hypercalciuric nephrolithiasis (XLHN) includes four syndromes: X-linked recessive nephrolithiasis with renal failure, Dent disease, X-linked recessive hypophosphatemic rickets, and Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis. These syndromes differ in degree from each other, but common themes include proximal tubular reabsorptive failure, nephrolithiasis, nephrocalcinosis, progressive renal insufficiency, and in some cases rickets. They were reported independently, but mutations in the chloride channel gene CLCN5 have been identified in all four syndromes.
