using preimplantation genetic diagnosis in autosomal dominant polycystic kidney disease patients: a multicenter clinical trial

Conditions: Polycystic Kidney, Type 1 Autosomal Dominant Disease

Summary: autosomal dominant polycystic kidney disease (adpkd) is the most common monogenic hereditary kidney disease in humans. adpkd may affect all the generations of the adpkd family and the probability of adpkd is 50% in the second generation for each gender. it has been confirmed that pkd1 and pkd2 are two pathogenic genes of adpkd. nowadays, the investigators have established an effective gene detection technology platform for pkd1/2 gene with long fragment pcr and next generation sequencing. first, the investigators performed genetic testing in patients with clinically diagnosed adpkd and strong fertility desire, but afraid of hereditary risk. using preimplantation genetic diagnosis, including multiple annealing and looping-based amplification cycles amplification technique, the investigators successfully screened out healthy embryos by in vitro fertilization. then the investigators transplanted embryos returned to the parent. when the baby is born, using umbilical cord blood gene detection, the investigators confirmed that the neonates do not inherit genetic defects form parents. the investigators have succeeded in one couple. the investigators design a multicenter clinical trial to confirm those procedures efficacy and safety.


Eligibility criteria:
inclusion criteria: * only one adpkd patient in one couple without gender limitation * wife has age limitation from 20 years to 35 years * adpkd adpkd diagnosis with or without family history * find out specific pathogenic mutations in the pkd1 gene with at least one of the following: one of family patients done kidney transplantation or renal replacement therapy before 58 years old; one of family patients died of complications before 55 years old; the patient with total kidney volume more than 650ml; the patient with total kidney volume increase rate more than 6% every year; the patient's pkd1 mutation belongs to truncated gene mutation. * both husband and wife have assisted reproductive conditions and will * pregnancy compliance with chinese laws * signed informed consent exclusion criteria: * active pathogenic microorganism infection, such as hepatitis b or c, hiv, pulmonary tuberculosis, giant cell virus, fungi or other contraindications for preimplantation genetic diagnosis and so on * any one of the couple has used any drugs which may lead to abnormal reproductive system function, reproductive cell abnormalities, pregnancy risk increases in the past 3 months, or has history of drug abuse * any one of the couple has malignancy * the wife has uncontrolled hypertension or refractory hypertension * the wife has diabetes mellitus * the wife has albuminuria * the wife has autoimmune disease * the wife has other disorders or functional abnormalities, such as liver or renal dysfunction, which may be aggravated by pregnancy or assisted reproduction * allergy to drugs or related products which cannot avoid in our study * participating in other clinical studies in last 3 months * participants cannot follow the study program * other conditions that the researchers considered unsuitable for participation