ABSTRACT
Objective To investigate the clinical features and disease-causing mutations of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.Methods In February 2016,a 24 year old female patient with left kidney stone and nephrocalcinosis in bilateral kidneys was admitted to our hospital.One month prior to this admission,she had been treated by PCNL to remove the most part of left kidney stone in otherhospital.Mter admission,She was found hypomagnesaemia (serum magnesium 0.65 mmol/ L) and hypercalciuria (24h urine calcium 364.0 mg) but with normal renal function (serum creatinine 101.5μmol/L).And the remained part of left kidney stone was removed by flexible ureteroscope.As she was considered probably with an autosomal recessive FHHNC,an analysis of CLDN16 and CLDN19 gene mutations was performed using her and her parents'peripheral white blood cells.Results Mutation analysis revealed this patient had two heterozygous mutations in the CLDN16.One is an one-base deletion mutation in the 123th codon in exon 2:368delA.The other is a missense mutation in the 139th codon in exon 2:416C →T which resulted in an amino acid change Ala139Val.Her parents respectively had one of each heterozygous mutation.In the six months follow-up,an oral administration with hvdrochlorothiazide,potassium citrate,and calcium magesium supplements significantly reduced her hypomagnesaemia (serum magnesiun 1.0 mmol/L) and hypercalciuria (24-h urine calcium 156.0 mg),and no stone recurrence and aggravation of nephrocalcinosis and renal dysfunction occurred.Conclusions We diagnosed a patient with FHHNC who had a novel compound heterozygous mutation of CLDN16.This rare disease should be suspected if there are three constant clinical features of hypomagnesaemia,hypercalciuria and nephrocalcinosis,and verified with CLDN16 and CLDN19 gene test.Currently the option for treatment of FHHNC is symptomatic treatment until severe deterioration of renal function.The hydrochlorothiazide,potassium citrate,and calcium magesium supplements may have considerable effects on hypomagnesaemia and hypercalciuria.
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Objective To discuss the techniques and efficacy of Ho:YAG laser incision by using uteroscopy for ureterostenosis.Methods From July 2004 to April 2007,52 patients with ureterostenosis received ureteral incision by using Ho:YAG laser under a endoscope.Two double pigtail stents(F5 or F6) were placed in the ureters after the operation and left indwelling for 8 to 12 weeks.Ultrasonography and excretion urography were performed 3 to 6 months after extubation.Results Follow-up was available for 3 to 24 months(mean,17 months) in 46 patients,of which 40(87%) were cured after the treatment.In the cured patients,hydronephrosis,ureteral dilation,and ureterostenosis were improved,and the pain in the kidney region was relieved;none of them showed signs of infection.In the other 6 patients,4 were improved after the treatment(no deterioration of the symptoms of hydronephrosis,ureteral dilation,and pain in the kidney region,and no infection);and 2 failed(the symptoms of hydronephrosis and ureteral dilation deteriorated,and pain in the kidney region and infection were developed).Conclusion Endoscopic ureteral excision using holmium laser combined with indwelling of two double pigtail stents is effective and safe for ureterostenosis.
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<p><b>OBJECTIVE</b>To investigate the diagnosis and treatment of incidental prostate cancer (IPC) following transurethral plasma kinetic vaporization prostatectomy (TUPVP).</p><p><b>METHODS</b>Pathological examinations were conducted on 134 benign prostate hyperplasia specimens by means of series microtomy after TUPVP.</p><p><b>RESULTS</b>Fifteen cases of IPC were detected from the total number of TUPVP specimens, with a pick-up rate of 11.2%. Dual testicle resection with endocrine therapy was performed in 4 cases of Stage A2 patients, and endocrine therapy alone was conducted in 9 cases of Stage A1 patients. Thirteen patients were followed up for 7 to 15 months and all lived without cancer (PSA 0.15 - 4.0 microg/L).</p><p><b>CONCLUSION</b>TUPVP and series microtomy may be helpful to the diagnosis of IPC. Patients at Stage A1 need mere endocrine therapy, while those at Stage A2 warrant dual testicle resection.</p>
Subject(s)
Aged , Aged, 80 and over , Humans , Male , Middle Aged , Follow-Up Studies , Neoplasm Staging , Orchiectomy , Prostate-Specific Antigen , Blood , Prostatic Hyperplasia , Pathology , General Surgery , Prostatic Neoplasms , Pathology , General Surgery , Transurethral Resection of ProstateABSTRACT
Objective To consider the clinical significance of retroperitoneal laparoscopic adrenalectomy for adrenal diseases. Methods We analyzed 33 cases of adrenal diseases treated by retroperitoneal laparoscopic adrenalectomy in this hospital from October 1996 to December 2001. Results Retroperitoneal laparoscopy was successfully applied in 31 cases, whereas conversions to open adrenalectomy were required in the other 2 cases. The mean operation time was 158 min (120 min～200 min). The mean intraoperative blood loss was 150 ml, without blood transfusion needed. The mean length of hospital stay was 6.4 days. Conclusions Compared with open surgery, retroperitoneal laparoscopic adrenalectomy has the advantages of minimal invasion, less blood loss, fewer complications, quicker recovery and shorter hospital stay length. This procedure can be applied to in the absence of contraindications (such as tumor size being more than 10cm, metastatic carcinoma and vital organs or blood vessels being involved).