Because autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic abnormalities seen in today's medical practice, many internists will likely treat patients affected by this condition. Genetic abnormalities have been increasingly recognized, and the pathophysiology of the disease is beginning to be unraveled. Because of advances in imaging technology, surrogate markers for disease progression have allowed clinical studies of newer therapeutic agents to proceed. In the near future, therapies for this common genetic disease may be available to either prevent or stabilize the disease course for many affected individuals.
Humans ; *Polycystic Kidney, Autosomal Dominant/complications/diagnosis/genetics/therapy ; Prognosis

A 62-yr-old woman with an autosomal dominant polycystic kidney disease (ADPKD) was admitted to our hospital for further evaluation of intermittent fever, nausea and left flank discomfort. The computed tomography (CT) scan revealed a gas-forming, infectious cyst of approximately 8.1 cm in size in left kidney lower pole. Escherichia coli was identified from the cyst fluid culture examination. Her symptoms improved only after the concomitant use of intravenous ciprofloxacin and an intracystic irrigation of ciprofloxacin through a percutaneous cystostomy drainage. Our case presents the successfully treated emphysematous cyst infection with combination of intravenous antibiotics and intracystic antibiotic therapy instead of surgical management.
Anti-Bacterial Agents/*therapeutic use ; Ciprofloxacin/*therapeutic use ; Cystostomy ; Cysts/microbiology ; Escherichia coli Infections/complications/*drug therapy ; Female ; Humans ; Injections, Intravenous ; Middle Aged ; Polycystic Kidney, Autosomal Dominant/complications/*diagnosis ; Therapeutic Irrigation ; Tomography, X-Ray Computed

ObjectiveAutosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic renal diseases, which may cause oligoasthenospermia and azoospermia and result in male infertility. This study aimed to analyze the outcomes of preimplantation genetic diagnosis (PGD) in male patients with ADPKD-induced infertility.

METHODSWe retrospectively analyzed the clinical data on 7 male patients with ADPKD-induced infertility undergoing PGD from April 2015 to February 2017, including 6 cases of oligoasthenospermia and 1 case of obstructive azoospermia, all with the PKD1 gene heterozygous mutations. Following intracytoplasmic sperm injection (ICSI), we performed blastomere biopsy after 5 or 6 days of embryo culture and subjected the blastomeres to Sureplex whole-genome amplification, followed by haplotype linkage analysis, Sanger sequencing, array-based comparative genomic hybridization to assess the chromosomal ploidy of the unaffected embryos, and identification of the unaffected euploid embryos for transfer.

RESULTSOne PGD cycle was completed for each of the 7 patients. Totally, 26 blastocysts were developed, of which 12 were unaffected and diploid. Clinical pregnancies were achieved in 6 cases following 7 cycles of frozen embryo transplantation, which included 5 live births and 1 spontaneous abortion.

CONCLUSIONSFor males with ADPKD-induced infertility, PGD may contribute to high rates of clinical pregnancy and live birth and prevent ADPKD in the offspring as well. This finding is also meaningful for the ADPKD patients with normal fertility.

Abortion, Spontaneous ; genetics ; Biopsy ; Blastocyst ; Comparative Genomic Hybridization ; Embryo Transfer ; Female ; Humans ; Infertility, Male ; etiology ; genetics ; Male ; Mutation ; Polycystic Kidney, Autosomal Dominant ; complications ; diagnosis ; genetics ; prevention & control ; Pregnancy ; Pregnancy Outcome ; Preimplantation Diagnosis ; Retrospective Studies ; Sperm Injections, Intracytoplasmic