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Background: Primary immunodeficiency disorders (PID) are rare disorders with heterogeneous manifestations, overlapping with other diseases such as autoimmunity, malignancy, and infections. This makes the diagnosis very challenging and delays management. Leucocyte adhesion defects (LAD) are a group of PIDs in which patients lack adhesion molecules on leukocytes needed for their emigration through blood vessels to the site of infection. Patients with LAD can present with diverse clinical features including severe and life-threatening infections, early in life, and the absence of pus formation around infection or inflammation. There is often delayed umbilical cord separation, omphalitis, late wound healing, and a high white blood cell count. If not recognized and managed early, can lead to life-threatening complications and death.Case Presentation:LAD 1 is characterized by a mutation in integrin subunit beta 2 (ITGB2). We report two cases of LAD1 with unusual presentations (post-circumcision excessive bleeding and granulomatous inflammation of the right eye) which were confirmed by flowcytometric analysis and genetic testing. In one case we found a novel ITGB2 mutation (c.994‒1G>C; splice site variant).Conclusions:These cases highlight the importance of a multidisciplinary approach to recognizing clues in patients with uncommon manifestations of a rare disease. This led to the proper diagnostic workup of primary immunodeficiency disorder leading to a better understanding of the disease, appropriate patient counseling, and being better equipped to deal with complications.

Urolithiasis has always been a fascinating disease, even more so in children. There are many intriguing facets to this pathology. This article is a nonsystematic review to provide an update on the surgical management of pediatric urolithiasis. It highlights the pros and cons of various minimally invasive surgical options such as extracorporeal shockwave lithotripsy (ESWL), retrograde intrarenal surgery (RIRS), percutaneous nephrolithotomy (PCNL), laparoscopy, and robotics. This article also describes the various intracorporeal disintegration technologies available to fragment the stone, including the newer advancements in laser technology. It also emphasizes the cost considerations especially with reference to the emerging economies. Thus, this manuscript guides how to select the least-invasive option for an individual patient, considering age and gender; stone size, location, and composition; and facilities and expertise available.

Background Paediatric urolithiasis remains endemic in low resource countries. This review highlights the epidemiology, causation and management of urolithiasis in an Asian country in the context of emerging economies. Methods A literature review of recent articles with key words paediatric urolithiasis, developing countries, endemic stone disease, stone composition, metabolic risk factors, management of paediatric urolithiasis was undertaken and 51 relevant articles were selected with the main focus on experience of this center in managing stone disease in the last two decades. Results Prevalence of paediatric urolithiasis is high upto 15% affecting children under 15 years with male predominance. Bladder stones still constitutes 10–70% of the burden. Etiology remains unknown where 55% are considered idiopathic, 25% metabolic, 7% infection and 12% due to anatomical abnormalities. Hot climate, poor nutrition, diarrheal diseases are the major causative factors. Chemical composition of stones showed CaOX in 30–63%, AAU in 17–55%, struvite in 8–9%, uric acid in 3–6% and cystine in 1%. Important metabolic risk factors are hypocitraturia in 63–87%, hyperoxaluria in 40–43%, hypocalciuria in 20%, hyperuricosuria in 27%, hyperammonuria in 11–51% and hypovolemia in 31%. Minimally invasive surgery is the mainstay of surgical management. ESWL provides excellent free rates of 84% for smaller stones. PCNL is the option for majority of renal stones with success rates of 89% for simple and 71.5% for complex stones. For bladder stones PUCL and PCCL success rates were 100%. URS for ureteric stones showed clearance rate of 90%. Open surgery is required in 12% of patients with large stone burden. Conclusion Paediatric urolithiasis remains a devastating health problem in low resource settings. MIS offers relief to majority of patients with excellent stone free rates and short hospital stay. Preventable strategies have to be put in place by improving nutrition and eliminating risk factors by diet and medical intervention.

We evaluated the role of clean intermittent self-catheterization through a continent catheterizable Mitrofanoff channel in an augmented bladder in children with bladder dysfunction and outlet obstruction.We retrospectively analyzed the records of 82 patients treated at a public sector hospital with pediatric urology services in a developing country. Patients came from all provinces of the country with diverse ethnic, cultural, linguistic, socioeconomic and educational backgrounds.Mean +/- SD patient age was 9.07 +/- 3.38 years (range 2.5 to 15) with a male-to-female ratio 2.5:1.0. The main congenital and acquired abnormalities were posterior urethral valves in 29% of patients, neuropathic bladder in 22%, nonneurogenic neurogenic bladder in 17%, exstrophy plus epispadias in 10% and urethral stricture in 7%. Augmentation cystoplasty was performed using various bowel segments. The Mitrofanoff channel was made using appendix in 70 cases and by the spiral Monti method in 12. A stoma was created in the right iliac fossa using VQZ plasty in 72 patients and an umbilical stoma was created in 10. Complications included bladder calculus in 3 patients, stomal stenosis in 2, subacute intestinal obstruction in 4 and acute intestinal obstruction in 1. Compliance was observed in greater than 90% of the patients at a mean followup of 860 days.In a developing country setting with a low socioeconomic and educational level it is possible to successfully perform augmentation cystoplasty with clean intermittent self-catheterization through a continent catheterizable channel in children with bladder dysfunction and outlet obstruction. The active role of pediatric urologists in the care, teaching and counseling together with free care to all are the reasons for acceptance and compliance.

Purpose In Pakistan there is a high prevalence of Urolithiasis both in adults as well as in children. Minimally invasive techniques for the treatment of urinary calculi in children are recommended due to an increased probability of stone recurrence. Percutaneous nephrolithotomy (PCNL) is an established technique used in children with renal calculi. We report our experience with PCNL for treating nephrolithiasis in children. Material and Methods Clinical records of children who underwent PCNL procedures for renal calculi from June 2004 to June 2009 were reviewed. A total of 500 children with renal calculi were treated with PCNL. Patients had pre-operative blood and urine analysis, ultrasonography of kidneys, ureter, bladder and X-ray IVU or CT KUB. Tract was made in prone position using fluoroscopy and ultrasound. 22 to 26 Fr sheaths with 18.0, 20.5 and 24 Fr nephroscope were used accordingly. Ultrasound and pneumatic lithoclast alone or in combination were used for stone fragmentation.variabe assesed included patient's age, sex and stone burden. PCNL route, calyceal access and number of tracts also recorded.we reviewed operative time, Hb drop, stone clearance and complications. Results 500 PCNL procedures were performed. Patient's age at operation ranged from 8 months to 15 years with 35% children of pre school age group (≤ 5 years of age). M: F ratio of 2.3: 1. Stone burden ranged from 3.1 ± 3.7 cm2 with stone clearance rates of 89% with monotherapy. During the procedure mean Hb drop was 1.36 ± 0.8 gm% while 14.6% patients required blood transfusion. Intra and post operative complications included conversion to open surgery in 2.6% (due to failed tract or excessive bleeding), extravasation of fluid in 3.6% and uro sepsis in 1.6%. Conclusions Percutaneous nephrolithotomy is a suitable and safe procedure in children including pre-school age group for both simple and complex stones.

Purpose Paediatric transplantation is challenging in many ways, especially so when it is performed in patients with history of lower urinary tract dysfunction. We report our experience of Paediatric renal transplants with and without lower urinary tract dysfunction. Material and Methods 300 Paediatric (2-18 years) living related renal transplants (LRRTX) were performed between 1986 and 2008. Among them twenty had (significant) lower urinary tract dysfunction, majority including posterior urethral valves and non neurogenic neuropathic bladders. Of the twenty, 16 had undergone augmentation cystoplasty using various bowel segments and mitrofanoff continent catheterizable channel and were trained for CISC prior to LRRTX. Pre transplant native kidney nephrectomies were performed in four patients for optimization. Results Average age of the patient was 14 years. One year and five year graft survival in both groups were similar, 92% and 80% respectively. Acute rejection episodes were 23%. Chronic rejection (63%) and infections were the main causes of graft losses. Recurrent urinary tract infection was the major complication encountered in patient with augmented bladders performing CISC. One patient needed redo ureteroneocystostomy. All graft ureters were reimplanted in native bladder. Post transplant, native kidney nephrectomy was needed in one patient because of pyonephrosis. Conclusions Renal transplantation provides equally good graft and patient survival even in patients with history of lower urinary tract abnormalities, at least in short term. However, frequent urinary tract infection carries a high risk for the graft.

Purpose To analyze the chemical composition of the core and surface of renal and bladder calculi and its importance in determining etiology of stone formation. Material and Methods The mainstay of stone analysis was infrared spectroscopy. In stones with compound mixtures chemical examination was undertaken. Stones with Amonium Hydrogen Urate (AHU) in the core were evaluated by scanning electron microscopy (SEM)to determine crystal structures and stones Results Of the 2039 stones analyzed, 726 (36%) were composed purely of a single compound salt and 64% were mixed stones. Overall frequency of compounds in stones was AHU in 58%, calcium oxalate monohydrate (COM) in 63%, calcium oxalate dehydrate (COD) 20%, uric acid (UA) 6%, calcium phosphate apatite (CAP) 12% and struvite in 8%. Surface and core analysis was possible in 1274 renal stones. Frequency of compounds in core of renal stones were AHU 64%, CaOx 41%, UA 3%, CAP 9% and struvite 5%. In the surface analysis, AHU reduced to 30% and CaOx increased to 72%. Stratification of pure stones by age groups, A ( 10 years), showed differences in pattern of stones types. Separate core and surface analysis was possible in 198 bladder stones. Frequency of compounds in core of bladder stones was AHU 61%, CaOx 35%, UA 10%, CAP 7%, and struvite 6%. Surface analysis again showed low AHU (37%), high CaOx (52%) and increased UA (16%), CAP (12%) and struvite (15%). Conclusions The presence of AHU in kidney and bladder calculi suggests a common cause in our population i.e. endemic calculi due to poor nutrition, diarrhea and dehydration. Increasing age gives pattern similar to developed world where calcium oxalate predominates.

Purpose To determine the efficacy and safety of ureterorenoscopic Holmium:YAG lithotripsy for ureteric stone in children. Material and Methods Records of 186 children with ureteral calculi managed with ureterorenoscopic Holmium:YAG lithotripsy were reviewed between July 2005 and December 2007. Patient records were reviewed for age, sex, stone laterality, location, number and size, need for ureteral stenting and complications in perioperative period and follow up. Paediatric cystoscope(miniscope) size 6/7.6 ch, ureterorenoscopes sizes 6/7.5 ch and 7.8/9 ch were used according to the size of patient and site of stone. Results Of the 186 children, 71 were female and 115 were male. Mean age was 6.1 years (age range 9months-14 years). There was no significant difference in stone laterality (eighty four left, ninety four right and eight bilateral ureteral stones). Main presenting symptoms were renal colic, hematuria and urinary tract infection or a combination of these symptoms. DJ stents were placed at the conclusion of the procedure in 54 patients while ureteral catheter was retained in rest of the cases for 24 to 48 hours. The procedure was carried in the same session for bilateral stones in eight patients. Additional procedure include PCNL in 12 and cystolithoclast in 5 cases for associated renal and bladder calculi respectively. Complete stone clearance was achieved at the end of the treatment in all patients (success rate 100%). Complications encountered during the procedure include extravasation of irrigant in 5 patients, required ultrasound guided placement of drain and per cutaneous nephrostomy in 2 patients for transient obstructive hydronephrosis. Other complications include mild haemeturia and urinary tract infection. Conclusions This study confirms the effectiveness and safety of ureterorenoscopy and holmium laser in the treatment of ureteral stones in children regardless of stone location.

Purpose To determine the value of Bonn Risk Index (BRI) in Calcium Oxalate stone formers before and after stone removal. Material and Methods Twenty four hours urinary and stat urine samples were collected from 66 patients with Calcium Oxalate stones before and one month after stone removal with dietary and medical interventions. BRI was estimated in 2 ml of native urine at 37 °C. Ammonium Oxalate 40 mmol/L was added at minute interval with constant mixing in 0.050 ml increments and absorbance measured at 620λ in spectrophotometer. Nucleation was recorded with the increase of absorbance. Ionic Calcium was measured by an Ion selective electrode. BRI was calculated by the formula: BRI = [Ca + 2] mmol/L/ [Ox-2]. BRI > 1/L was taken as risk and BRI of Results The mean BRI before surgery in 24 hour urine was 3.4 ± 1.8/L as compared to post-operative mean value of BRI 1.4 ± 1.4/L (p = 0.002). Mean urinary calcium before surgery was 1.8 ± 0.6 mmol/L vs 1.2 ± 0.4 (p = 0.01) after surgery. Mean oxalate added was 0.8 ± 0.3 vs 1.3 ± 0.5 mmol after surgery. Urinary magnesium showed a hyperbolic correlation with BRI. No correlation was found with citrate. In comparison to 24 hour urine the mean BRI in 14 stat samples was 4.6 ± 5.29 vs 2.1 ± 1.8 in stat urine post-operative. Conclusions BRI is a valuable tool to assess risk of Calcium Oxalate stone formation and clearly reflects the influence of dietary and medical intervention post operatively. It can be used to monitor effects of dietary and medical interventions.

Purpose Pediatric urolithiasis is endemic in Pakistan and constitutes about 13% of all urolithiasis cases. Urolithiasis associated with renal failure is one of the most important cause of pediatric ESRD in Pakistan. Material and methods Retrospective analysis of 402 children with urolithiasis and associated renal failure. Ultrasound was the mainstay of radiological diagnosis and assessment. Results 402 patients, age ranged between 9 months to 14 years with male female ratio of 2:1. More than 50% had a positive family history of stone disease. Apart from obstruction and infection, poor socioeconomic status (89%), rural residence (66%), neglect and delay in acquiring treatment led to renal failure in these patients. The most common signs and symptoms were fever (56.7%), flank pain (55.2%), shortness of breath (38%) and vomiting (38.3%). 105 (26%) were anuric at presentation and 297 (74%) non-anuric. More than 60% of these patients had bilateral stones and associated urinary tract infection. The initial management of these patients required dialysis mostly peritoneal dialysis in small children. Percutaneous nephrostomy with or with out dialysis was also the main stay of initial management especiallyfor those presenting with a pyonephrosis. In some “Double J” stents were also placed to relieve obstruction. Details of operative procedures for definitive treatment and type of stones will be provided in presentation. Conclusions About 70% of the patients had good recovery of renal function. These good results were achieved because of the provision of free high technological treatment to all our patients under one roof with close co-operation of pediatric urology, nephrology and intensive care teams.