Immunological and molecular study in children with combined immunodeficiency.

Summary: Background. Severe combined immunodeficiency (SCID) is a form of immunodeficiencies (PID), caused by molecular defects. These defects can restrict the development and function of lymphocytes. Early diagnosis and treatment of SCID can lead to disease-free survival. Objective. This study aims to investigate some of the possible underlying genetic defects in a group of Egyptian infants and children with clinical and immunological profiles suggestive of SCID. Methods. This study included eighty patients who showed clinical warning signs of immunodeficiency. Subjects were thoroughly examined clinically. Laboratory evaluation included immunoglobulins serum levels and flow cytometric assessment of immune cells. This testing showed an altered immune profile in thirty patients. They had decreased T and/or B lymphocytes or natural killer cells. DNA extraction was done for those cases. The coding regions of the RAG1 gene and RAG2 gene was investigated for hot spot mutations by sequencing technique guided by the patient clinical evaluation, inheritance pattern, immunophenotyping by flow cytometric analysis of lymphocyte subsets, and serum immunoglobulins level detection. Results. Results showed novel and previously reported variants (mutation, polymorphism), they were found in 18 cases which include variants in the RAG1 gene (E880K, A960A, H249R, S913R, K820R, V782G), and variants in the RAG2 gene (P501T, L514M, rs10836573, cDNA.2129A>T). Conclusions. To evaluate SCID patients completely; mutation gene analysis is highly required and recommended.

Laparoscopic donor nephrectomy: single-center experience in Egypt with 400 consecutive cases.

INTRODUCTION: In this study, we present our experience with laparoscopic donor nephrectomy and evaluate the outcomes of donors and recipients. PATIENTS AND METHODS: Between March 2003 and August 2006, 400 laparoscopic donor nephrectomies were performed in our institution. Donors were evaluated for renal vasculature using computed tomography angiography. We used the left kidney in 329 donors and the right kidney in 71. Donor surgeries were done transperitoneally using three trocars on the left side and four trocars on the right side. Kidneys were extracted manually through a 7-cm Pfanenstiel incision. RESULTS: All cases were completed laparoscopically. Mean operative time was 117 +/- 34 minutes. Mean blood loss was 56 +/- 28 mL. None of the donors required a blood transfusion. Mean warm ischemia time was 2.6 +/- 0.4 minutes. The mean renal artery length was 3.1 +/- 0.4 cm; the mean renal vein length was 2.4 +/- 1.2 cm. Mean hospital stay was 2.1 days. No donor required readmission. Kidneys were transplanted successfully and the mean recipient creatinine on discharge was 1.2 +/- 0.6 mg/dL. One patient had a renal artery thrombosis on postoperative day 2. Another patient with double renal arteries had thrombosis of the smaller artery just after surgery. Acute tubular necrosis was seen in 17 patients, four of whom required dialysis. Kidney function recovered thereafter in all acute tubular necrosis cases. CONCLUSION: Laparoscopic surgery is a minimally invasive approach for living donor nephrectomy with good functional outcomes. The donor benefits from lesser morbidity without compromising the anatomic or physiological outcome of the nephrectomized kidney.

Laparoscopic donor nephrectomy for pediatric recipient.

INTRODUCTION: To present our outcome of laparoscopic donor nephrectomy for pediatric recipients, who may pose special challenges. MATERIALS AND METHODS: Since March 2003, we performed more than 400 laparoscopic donor nephrectomies for 39 pediatric recipients (age less than 17 years of age). The preoperative, intraoperative, and postoperative data were reviewed to analyze the outcomes of these cases. We used the left kidney in 26 and the right kidney in 13 cases. Seven cases had double renal arteries, which were reconstructed on the bench. RESULTS: The mean donor and recipient ages were 31 +/- 5 years and 13 +/- 4 years, respectively. The mean donor operative time was 2.1 hours (range 1.2 to 3.2). The warm ischemia time averaged 3 +/- 0.6 minutes. In 27 cases, we used the common iliac artery and common iliac vein for vascular anastomosis. In 12 cases, the anastomosis was performed to the aorta and vena cava. Seven patients had prior augmentation cystoplasty, and the ureter was anastomosed to the pouch directly. All grafts functioned immediately, with a mean creatinine at 24 hours of 1.5 +/- 0.3 mg/dL. At last follow-up (mean 13.6 months), the mean creatinine was 0.9 mg/dL. One patient lost the graft due to severe rejection that was resistant to antithymocyte globulin. CONCLUSIONS: Laparoscopic donor nephrectomy for pediatric recipients is safe and provides quality organs with excellent function. Outcome is comparable to those after open donor nephrectomy.