Litvinchuk Tetiana, Tao Yunxia, Singh Ruchi, Vasylyeva Tetyana L
Department of Pediatrics, Texas Tech Health Sciences Center , Amarillo, TX , USA.
Department of Internal Medicine, Texas Tech Health Sciences Center , Amarillo, TX , USA.
Front Pediatr. 2015 Oct 9;3:82. doi: 10.3389/fped.2015.00082. eCollection 2015.
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by renal cyst formation due to mutations in genes coding for polycystin-1 [PKD1 (85-90% of cases), on ch 16p13.3] and polycystin-2 [PKD2 (10-15% of cases), on ch 4q13-23] and PKD3 gene (gene unmapped). It is also associated with TSC2/PKD1 contiguous gene syndrome. ADPKD is usually inherited, but new mutations without a family history occur in approximately 10% of the cases.
A 17-year-old boy was followed up for bilateral cystic kidney disease, hypertension, and obesity since he was 13 years old. The diagnosis was an accidental finding during abdominal CT at age 13 to rule out appendicitis. A renal ultrasonogram also demonstrated a multiple bilateral cysts. Because of parental history of bilateral renal cysts, PKD1 and PKD2, genetic testing was ordered. Results showed, PKD2 variant 1:3 bp deletion of TGT; nucleotide position: 1602-1604; codon position: 512-513; mRNA reading frame maintained. The same mutation was later identified in his father.
A smaller number of patients have a defect in the PKD2 locus on chromosome 4 (resulting in PKD2 disease). There are no known published cases on this familiar genetic variant of ADPKD-2 cystic kidney disease. In this case, the disease is present unusually early in life.
常染色体显性多囊肾病（ADPKD）的特征是由于编码多囊蛋白-1[PKD1（85%-90%的病例），位于16号染色体短臂1区3带]、多囊蛋白-2[PKD2（10%-15%的病例），位于4号染色体长臂1区3带至2区3带]以及PKD3基因（基因未定位）的基因突变导致肾囊肿形成。它还与TSC2/PKD1相邻基因综合征相关。ADPKD通常具有遗传性，但约10%的病例会出现无家族史的新发突变。
一名17岁男孩自13岁起就因双侧囊性肾病、高血压和肥胖接受随访。该诊断是在13岁时为排除阑尾炎进行腹部CT检查时偶然发现的。肾脏超声检查也显示双侧多发性囊肿。由于其父母有双侧肾囊肿病史，因此对PKD1和PKD2进行了基因检测。结果显示，PKD2基因变异：TGT缺失3个碱基对；核苷酸位置：1602-1604；密码子位置：512-513；mRNA阅读框保持完整。后来在他父亲身上也发现了相同的突变。
少数患者存在4号染色体上PKD2基因座缺陷（导致PKD2疾病）。关于这种ADPKD-2型囊性肾病的常见基因变异，尚无已知的公开病例报道。在本病例中，该疾病在生命早期就异常出现。
