【摘 要】
:
Background: There are few studies on the genotypes and phenotypes of autosomal recessive polycystic kidney disease in Chinese patients. Methods: PKHD1 mutation
【机 构】
:
Department of Pediatrics
论文部分内容阅读
Background: There are few studies on the genotypes and phenotypes of autosomal recessive polycystic kidney disease in Chinese patients. Methods: PKHD1 mutations in three children were detected with PCR and direct sequencing, and their clinical data were retrospectively reviewed. Results: All of the children had bilateral enlarged polycystic kidneys, congenital hepatic fibrosis and intrahepatic bile duct dilatation. One of three children had classical multiple small cysts throughout the kidneys, and the other two children had bilateral multiple renal cysts of various sizes. Two children had abnormally shaped livers, portal hypertension and splenomegaly. Two heterozygous mutations (p.T36M, and p.P137S) were detected in Patient 1 and two were detected in Patient 2 (p.L2658X and p.V836A). One heterozygous mutation (p.L1425R) was detected in Patient 3. Conclusions: The study shows that renal and liver phenotypes of the Chinese children varied. Five mutations were identifi ed in the three children, three of which were novel mutations.
其他文献
Background: Hyperbilirubinemia occurs in most healthy term and late-preterm infants, and must be monitored to identify those who might develop severe hyperbilir
Background: This study aimed to investigate the mutation spectrum of the QDPR gene, to determine the effect of mutations on dihydropteridine reductase (DHPR) st
Background: Infants born outside perinatal centers may have compromised outcomes due to the transfer speed and effi ciency to an appropriate tertiary center. Th
Background: Ongoing low-grade inflammation and endothelial dysfunction persist in children with coronary lesions diagnosed with Kawasaki disease (KD). Statins,
Background: Despite the current obesity pandemic, childhood malnutrition remains an urgent, public health concern. Similar to the obesity pandemic, childhood ma
Background: Clinical trials have revealed that the antivascular endothelial growth factor (VEGF) therapies are effective in retinopathy of prematurity (ROP). Bu
伴随着数字化和网络化大潮的推进,作为知识的殿堂——传统高校图书馆正面临着一次全方位的技术革新,一个集信息储藏、加工、交互与传播于一体的崭新载体——数字图书馆,正脱
爱因斯坦说:“兴趣是最好的教师。”。杨振宁博士也说过:“成功的真正秘诀是兴趣。”学生只有对物理感兴趣,才想学、爱学,才能学好,从而用好物理。因此,如何激发学生学习物理的兴趣
Background: There are some risk factors being more vulnerable to Lemierre's syndrome such as a hypercoagulable state.
Methods: We report a rare case of Lemier