Dent Disease 1 (DENT1)

Dent病1型(来自ICD-11)

别称:

Dent Disease

Dent's Disease

Dent Disease Type 1

Dent Disease 2

Low-Molecular-Weight Proteinuria with Hypercalciuria and Nephrocalcinosis

Renal Fanconi Syndrome with Nephrocalcinosis and Renal Stones

X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets

Urolithiasis, Hypercalciuric, X-Linked

X-Linked Recessive Nephrolithiasis

Nephrolithiasis 2

Dent Syndrome

Dent1

Nphl2

Fanconi Syndrome, Renal, with Nephrocalcinosis and Renal Stones

Nephrolithiasis-Hypercalciuria X-Linked Recessive

Nephrolithiasis, Hypercalciuric, X-Linked

Dent Disease, Type 1

Dents Disease

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

牙病1型，也称为牙病，与肾结石、X连锁隐性、肾功能衰竭和X连锁隐性低磷性佝偻病有关，症状包括骨痛。与牙病1型有关的重要基因是CLCN5（氯离子电压门控通道5），其相关通路/超级通路包括cAMP依赖性PKA的激活和无机离子/氨基酸/寡肽的运输。在该疾病的背景下，已提到氢氯噻嗪和利尿剂。附属组织包括肾脏和骨骼，相关表型为蛋白尿和氨基酸尿。

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