Publications (4)4.6 Total impact
- [Show abstract] [Hide abstract] ABSTRACT: Autosomal dominant polycystic kidney disease (ADPKD) is a serious genetic disorder that can lead to chronic renal disease. Protein dysfunction caused by mutations in the genes polycystic kidney disease 1 (PKD1) and polycystic kidney disease 2 (PKD2) is an important factor in the pathogenesis of ADPKD. In the present study, 30 Chinese patients with confirmed diagnosis of ADPKD, based on ultrasound or computerized tomography (CT) findings were selected, and the exon copy numbers of PKD1 and PKD2 were determined using multiplex ligation-dependent probe amplification (MLPA). MLPA identified exon deletion in 1 case, suspected exon deletion in 4 cases, and suspected duplications in 3 cases. One case of suspected exon deletion was confirmed using quantitative real-time polymerase chain reaction (q-PCR) and sequencing (PKD2 exon 8). A missense mutation was observed in 1 case of exon deletion using q-PCR and sequencing (PKD1 exon 40, c.11333 C>A). The cases of suspected duplications were verified by q-PCR, and the copy number of exon 6 of PKD1 in 1 case of suspected duplication was 3.8 times greater than that in normal controls. Our findings provide new insights into ADPKD screening and mark a possibly meaningful step toward improved diagnosis and treatment of patients with ADPKD.
- [Show abstract] [Hide abstract] ABSTRACT: Objectifs L’article vise à résumer l’expérience du traitement du cancer du rein compliqué de thrombus tumoral dans la veine rénale et la veine cave inférieure. Méthodes Une revue rétrospective a été faite sur le diagnostic, le traitement, et le pronostic de 15 cas de cancer du rein compliqués de thrombus tumoral veineux de juillet 1994 à juillet 2006. Résultats Le diagnostic de 93% des cas (14/15) a été confirmé par scanner ou IRM préopératoire. Des 15 cas, deux avait un thrombus tumoral simple de la veine rénale du rein gauche et 13 avaient un thrombus tumoral de la veine cave inférieure ; parmi ceux-ci, neuf étaient de type I (para rénal), trois de type II (sous-hépatique), et un de type III (intra hépatique). Des 12 patients qui ont eu un traitement chirurgical, 11 ont eu une résection complète de la tumeur rénale, du thrombus veineux et des ganglions lymphatiques. L’excision palliative a été réalisée chez un patient avec une tumeur du rein gauche en raison d’adhérences. Les trois patients qui n’ont pas reçu de traitement chirurgical sont décédés, avec une durée moyenne de survie de 7 mois. Des 12 patients qui ont reçu le traitement chirurgical, trois ont été perdus de vue pendant le suivi, et les autres neuf ont été suivis pendant 4-72 mois ; de ces 9 patients, trois (25%) ont survécu sans récidive tumorale pendant plus de 5 ans, trois pendant 1-3 ans, et les trois autres sont décédés de métastases dans un délai de 1 an. Conclusion La TDM et l’IRM sont les meilleures techniques pour le diagnostic non invasif du cancer du rein compliqué de thrombus tumoral de la veine cave inférieure. Pour des patients sans métastase, la résection radicale de la tumeur et du thrombus offre souvent des résultats relativement satisfaisants.
- [Show abstract] [Hide abstract] ABSTRACT: The article aims to sum up experience in the treatment of renal cell carcinoma complicated with tumor thrombus in renal vein and inferior vena cava. A retrospective review was made on the diagnosis, treatment, and prognosis of 15 cases of renal carcinoma complicated with venous tumor thrombus from July 1994 to July 2006. The diagnosis of 93% (14/15) cases was confirmed by preoperative computed tomography or magnetic resonance imaging. Of the 15 cases, two had simple renal vein tumor thrombus of left kidney and 13 had inferior vena cava tumor thrombus; of the latter, nine were type I (pararenal type), three type II (subhepatic type), and one type III (intrahepatic type). Of the 12 patients who received surgical treatment, 11 had the renal tumors completely resected, the venous tumor thrombus removed, and lymph nodes cleared. Palliative excision was performed in one patient with a left kidney tumor because of adjacent adhesion. All the three patients who did not receive surgical treatment died, with a mean survival period of 7 months. Of the 12 surgical patients who received surgical treatment, three were lost during follow-up, and the other nine were followed up for 4-72 months; of these 9 patients, three (25%) survived tumor-free for more than 5 years, three for 1-3 years, and the other three died of metastasis within 1 year. Computerized tomography and magnetic resonance imaging are the best choice for noninvasive diagnosis of renal cell carcinoma complicated with inferior vena cava tumor thrombus. For patients without metastasis, radical resection of both the tumor and the thrombus often offers a relatively satisfactory outcome.
- [Show abstract] [Hide abstract] ABSTRACT: The aim of this work is to validate the clinical efficacy of the high-power holmium:YAG laser with percutaneous nephrolithotripsy (PCNL) in combination with ultrasound lithotripsy for complicated renal calculi. From November 2006 to December 2007, 60 patients with complicated renal calculi were treated with PCNL, where an F24 standard renal access tract was established by percutaneous renal puncture under the guidance of B-mode ultrasound, and stones were fragmented and cleared by high-power holmium laser in combination with ultrasound under an F20.8 nephroscope. Of the 60 patients with complicated renal calculi, 20 were complete staghorn calculi and 30 were partial staghorn calculi, of which six patients were accompanied with renal insufficiency; two were solitary calculi, and eight were caliceal diverticular calculi. Calculi were removed by one attempt in 49 patients and by two attempts in 11 patients; through one tract in 50 patients and through two and three tracts in ten patients. The stone-free rate was 81.7%. No injury to the pleura and abdominal organs occurred during the intraoperative puncture. No postoperative blood transfusion was needed in any patient, nor did fever and secondary hemorrhage occur. The mean operation duration was 98 min (range, 60-150 min), and the mean lithotripsy time was 45 min (range, 30-85 min). Additional postoperative extracorporeal shock wave lithotripsy (ESWL) was performed on six patients. High-power holmium laser PCNL in combination with ultrasound lithotripsy is safe, effective, and minimally invasive, with a high stone-free rate, especially for complicated renal calculi.
Shanghai Jiao Tong UniversityShanghai, Shanghai Shi, China
Renji HospitalShanghai, Shanghai Shi, China