Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Impaired Intellectual Development (PRTA-OA)

近端肾小管酸中毒伴有眼部异常-智力发育受损(来自ICD-11)

别称:

Autosomal Recessive Proximal Renal Tubular Acidosis

Renal Tubular Acidosis, Proximal, with Ocular Abnormalities

Proximal Renal Tubular Acidosis with Ocular Abnormalities and Intellectual Disability

Acidosis, Tubular, Renal, Proximal, with Ocular Abnormalities and Mental Retardation

Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation

Proximal Renal Tubular Acidosis with Ocular Abnormalities

Rta, Proximal, Autosomal Recessive

Autosomal Recessive Proximal Rta

Ar Prta

Prta-Oa

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

肾小管性酸中毒，近端型，伴有眼部异常和智力障碍，也称为常染色体隐性近端肾小管性酸中毒，与肾小管性酸中毒，近端型和代谢性酸中毒有关。与肾小管性酸中毒，近端型，伴有眼部异常和智力障碍有关的重要基因是SLC4A4（溶质载体家族4成员4）。在该疾病的背景下，已提到的药物有雷帕霉素和苯佐卡因。附属组织包括肾脏和肝脏，相关表型为智力障碍和脑钙化。

查看原文参与反馈