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Here we report a case that a young man had early onset myocardial infarction. Coronary angiography showed coronary aneurysm-like dilation and thromboembolism. After stents were implanted, his condition was complicated with repeated stent restenosis. Polycystic kidney, nephrotic syndrome and antiphospholipid antibody syndrome were also present. Antiphospholipid antibody syndrome, a risk factor for recurrent coronary thrombosis, can lead to nephrotic syndrome. Polycystic kidney can be characterized by nephrotic syndrome and may be combined with aneurysmal lesions due to genetic abnormalities. According to the multidisciplinary discussion and follow-up results, the patient was diagnosed as connective tissue diseases and secondary anti-phospholipid antibody syndrome, nephrotic syndrome, and coronary artery lesions. The patient's symptoms improved after treatment for the original disease. The management of this patient broadened our understanding of the etiology of coronary artery disease in young patients and demonstrated the importance of multidisciplinary clinical thinking.

Objective: To analyze the clinical data of a patient diagnosed as autosomal dominant polycystic kidney disease (ADPKD) complicated with pulmonary embolism (PE), and review reported cases in data base to explore the diagnosis and treatment in the ADPKD patients with venous thromboembolism(VTE). Methods: A 45-year-old male diagnosed as ADPKD [also had polycystic liver disease (PLD)] and pulmonary embolism (PE) was admitted in our hospital, and the clinical manifestations and laboratory results were analyzed. The diagnosis and treatment in the patients with ADPKD complicated with VTE were reviewed through searching PubMed and entire database. Results: The ADPKD patient with PLD, presenting with chest pain and shortness of breath, was diagnosed as PE using pulmonary ventilation perfusion examination and as deep VTE through imaging of deep venous. The MRI enhancement of the upper abdominal organs showed the stenosis lesions in hepatic segment of inferior vena cava, and polycystic liver combined with polycystic kidney. The heterozygous variation of PKD1 gene and PROS1 gene were detected by the whole exon sequencing. A total of 15 ADPKD patients complicated with deep VTE were reviewed. Among them, all cases had inferior vena cava thrombosis (IVCT), 13 cases had PLD, 2 cases had hepatic vein thrombosis, 12 cases had VTE, and 2 cases had PE. The symptoms of 10 ADPKD patients were relieved after anticoagulation treatment with heparin and warfarin, while 5 patients needed hardener or inferior vena cava filter placement or surgical treatment. Conclusions: The polycystic kidney(PKD) and PLD are not considered as the most common causes for VTE, which are easy to be ignored in medical practice. The ADPKD patients usually complicated with PLD, which may cause compression of inferior vena cava and lead to embolism. The primary treatment is anticoagulation, and the adjuvant therapy is relief of cyst compression.

Objective To clarify the pathogenic mutations and provide references for prevention and treatment strategies and prenatal diagnosis by gene detection in 3 pedigrees with autosomal dominant polycystic kidney disease (ADPKD). Methods The family history and clinical data of 3 ADPKD pedigrees who admitted to our department of urology during 2017 and 2020 were collected in this study. The peripheral blood samples of these family members were harvested for DNA extraction. Targeted amplification and high-throughput sequencing was used to screen suspected pathogenic mutations in probands, and then these obtained mutations were verified and analyzed in the probands and their family members by Sanger sequencing. The pathogenicity of these mutations was analyzed with bioinformation analysis and the evaluation criteria of the American Society of Medical Genetics. Results Ultrasound examination showed that all the probands from the 3 families had polycystic kidneys, at the clinical stages of G1, G3a, and G5 respectively. The deletion frameshift mutation c.5933delA (p.Asn1978fs), nonsense heterozygous mutation c.6871C>T (G2291X) and deletion frameshift mutation of c.894_897delCCCT (p.299Sfs*34) in polycystic kidney disease 1 (PKD1) gene were detected in pedigrees 1, 2 and 3, respectively. The above variants in the 3 families were in line with phenotype-genotype separation. Conclusion We identify the pathogenic variants in the 3 pedigrees of hereditary polycystic kidney disease, among which c.5933delA and c.894_897delCCCT are new mutations, and c.6871C>T is a known pathogenic mutation.

Objective：To report the mutations of SEPT12 gene in one case of severe asthenospermia combined with polycystic kidney, and discuss the possible role of SEPT12 gene by additional literature review. Methods：The clinical manifestations, laboratory tests and genetic test in a patient with severe asthenospermia and polycystic kidney were summarised, and related literatures were reviewed. Results：The c.947A＞G (p.N316S) and c.900C>G (p.D300E) mutations of SEPT12 gene were found by high-throughput sequencing in this case. After careful deliberation, this patient had his baby by intrauterine insemination (IUI) with donor′s semen. Conclusions： We reported the c.947A＞G (p.N316S) and c.900C＞G (p.D300E) mutations of SEPT12 gene in a patients with severe asthenospermia and polycystic kidney. In clinical practice, polycystic kidney should be checked in those patients with severe asthenospermia, and high-throughput sequencing used to test the related gene mutation. The preimplantation genetic diagnosis (PGD) or IUI with donor′s semen should be suggested for those patients. [ABSTRACT FROM AUTHOR]