A case of congenital pelvic arteriovenous malformation in a 41-years-old male treated by successful transarterial embolization was reported.This patient suffered from adult polycystic kidney disease and unknown reason for gross hematuria for four years.His left kidney was resected one year ago for suspected left nephrorrhagia but the hematuria remained.MRI examination of pelvis demonstrated AVM involving extensively the pelvic soft tissue,bladder and seminal vesicles.Bilateral internal iliac arterial angiography by DSA showed congenital pelvic arteriovenous malformations(CPAVM),the fringy anisotrophy vascular plexus supplied by many feeding arteries and drained into bilateral dilated and tortuous internal iliac venous branches.Super-selective catheterization and embolization for eight supplying blood branches,such as bilateral internal pudendal arterial branches,right obturator arterial branches,right inferior gluteal arterial branches,left superior vesical artery,left inferior vesical artery,spermatocyst artery and right lateral sacral artery etc,were carried out successfully with gelfoam sponge or PVA particulates in one time.His urine turned clear on the same day after arterial embolization,and no gross hematuria occurred during 6-months follow-up.The pelvic arterial angiography with embolization is extremely effective for the diagnostic and therapeutic measure of CPAVM.

ATP-binding cassette transporter A3(ABCA3) gene mutation is one of the important causes of severe respiratory distress syndrome and interstitial lung disease in children and adults.Clinical phenotypes vary dramatically among patients with ABCA3 mutations.So far, the genotype-phenotype correlation is not entirely clear.The association between the possible factors that influence the phenotypes, such as the environment, infection and diseases remains to be studied.There is no specific treatment for the diseases caused by the mutations.Present models for studying ABCA3 mutations in vitro are still to be improved.This article focuses on reviewing the structure, genetics and the research progress of treatment of ABCA3 gene mutation related pediatric diseases, in order to provide experience and ideas for further researches and treatment of the diseases caused by ABCA3 gene mutation.

Objective:Induced pluripotent stem cells (iPSCs) cell lines were established using peripheral blood mononuclear cells (PBMCs) from a patient suffering from neonatal respiratory distress syndrome (NRDS) who carried Adenosine triphosphate-binding cassette transporter A3 ( ABCA3) compound heterozygous mutations. Methods:Cell experimental research.Peripheral venous blood was collected and PBMCs were isolated and cultured in vitro. PBMCs were transfected with non-integrated Sendai vector carrying reprogramming factors.The chromosome karyotypes of the established iPSCs were analyzed.Immunofluorescence and flow cytometry were used to detect pluripotency markers of stem cells and verify their differentiation potential.Sanger sequencing was performed to analyze gene mutations.In addition, short tandem repeat (STR) analysis was performed, polymerase chain reaction(PCR) and agarose gel electrophoresis were used to detect virus residual. Results:Karyotype analysis of established iPSCs cell lines showed normal diploid 46, XY karyotype.Immunofluorescence showed positive staining of stem cell pluripotency markers OCT4, SSEA4, Nanog and Sox2.Flow cytometry was used to detected stem cell pluripotency markers and showed expression of TRA-1-60, SSEA-4 and OCT4.After differentiation into all three germ layers, immunofluorescence was performed to detect ectoderm (Pax-6), mesoderm (Brachyury) and endoderm alpha-fetoprotein markers, and the results showed positive staining, which confirmed that the iPSCs had the potential to differentiate.Sanger sequencing showed c. 3997_3998del and c. 3137C>T compound heterozygous mutations.STR analysis showed they originate from PBMCs, and no Sendai virus residual was detected by PCR and agarose gel electrophoresis.Conclusions:In this study, PBMCs from patient carrying ABCA3 compound heterozygous mutations was used to establish iPSCs cell lines.The research lays a foundation for the study of pathogenesis, therapeutic drug screening and cell therapy of NRDS caused by ABCA3 gene mutations.