PKD1 功能减弱等位基因影响常染色体显性遗传性多囊肾病的疾病变异性。
Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease.
机构信息
Division of Nephrology, Children's National Hospital, Washington, District of Columbia.
Children's National Research Institute, Washington, District of Columbia.
出版信息
Kidney360. 2023 Mar 1;4(3):387-392. doi: 10.34067/KID.0000000000000064.
Autosomal dominant polycystic kidney disease (ADPKD) manifesting earlier than expected on the basis of family history can identify clinically tolerant alleles with reduced expression. Hypomorphic alleles can cause mild kidney disease or liver cysts in the absence of clinically manifest kidney involvement. The presented data highlight pleiotropic ADPKD clinical presentations and varying severity of kidney disease from allele combinations.
常染色体显性多囊肾病 (ADPKD) 基于家族史表现出早于预期的情况，可以鉴定出临床上耐受的表达降低的等位基因。低功能等位基因可导致轻度肾脏疾病或肝脏囊肿，而无临床明显的肾脏受累。所呈现的数据突出了 ADPKD 的多种临床表现和不同严重程度的肾脏疾病与等位基因组合有关。
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