Ahmet Midhat Elmacı

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the loop of Henle. This disease is caused by mutations in the claudin-16 gene (CLDN16), which encodes the tight junction protein, claudin-16. Claudin-16 belongs to the claudin family and regulates the paracellular transport of magnesium and calcium. Here, we report on three Turkish siblings with typical clinical features of FHHNC in association with the homozygous mutation Leu151Phe.

Do JJ Stents Increase the Effectiveness of Extracorporeal Shock Wave Lithotripsy for Pediatric Renal Stones

Purpose: We aimed to evaluate the effects of preoperative urinary catheterization in nephrolithiasis treatment with extracorporeal shock wave lithotripsy (SWL). Methods: Patients admitted to the Department of Pediatric Surgery for renal stones between June 2012 and June 2014 were evaluated retrospectively. Patients were divided into 2 groups based on JJ stent placements. Group 1 did not receive JJ stents, while group 2 did. The recorded demographic data for each group included age, gender, stone size, location, sessions, and complications. The Elmed Complit ESWL system was used with 11-13 kV, and 1,000-1,200 shots in patients 2-4 years of age, and 11-14 kV, and 1,000-1,500 shots for patients over 4 years. Results: In group 1, 18 sessions of SWL were performed on 8 female and 2 male children with a mean age of 4.5 (range 2-12) years and stone diameter of 9 (range 7-15) mm. The locations of the renal stones were in the upper pole in 1 patient, 7 in the lower pole, and 2 in the pelvis renalis. Postoperatively, 1 patient had hematuria, 2 had dysuria, and one had a stone in the external urethral meatus. Eighty percent of patients were stone free; there were no fragmentations in 2 patients, and 1 patient discontinued treatment. In group 2, 15 SWL sessions were performed on 5 female and 5 male children aged 4 (range 3-5) and the stone diameter was 9 (range 7-16) mm. The locations of the renal stones were in the upper pole in 6 patients, in the lower pole in 3 patients, and in the ureteropelvic junction in one patient. JJ stents were placed in all patients preoperatively. Postoperatively, 3 patients had hematuria and one had dysuria. At the end of the study, all of the patients were stone free. Statistically, there were no differences in age, gender, stone size, location, and the number of sessions. Conclusions: Our results indicate that SWL without preoperative ureteral stenting is an effective and safe procedure that can be carried out in the pediatric population. Preoperative JJ stenting is unnecessary in patients, especially in those with smaller stone diameters.

An Unusual Association between Familial Mediterranean Fever and IgM Nephropathy

Objective: To report a case with the diagnosis of IgM nephropathy and familial Mediterranean fever (FMF). Clinical Presentation and Intervention: A 9-year-old boy was admitted to our hospital with recurrent abdominal pain since the age of 4 years. Laboratory investigations revealed a sedimentation rate of 88 mm/h, C-reactive protein: 83.2 mg/l (0–10 mg/l), white blood cell count: 12,700/mm3, fibrinogen: 622 mg/dl (200–400 mg/dl) and serum amyloid A: 186 mg/l (0–5.8 mg/l). Urinalysis revealed +2 proteinuria. A 24-hour urinary protein excretion was 12 mg/m2/h. M694V homozygous mutation was identified in exon 10. Percutaneous renal biopsy showed mesangial cell proliferation and increased mesangial matrix in the glomeruli, without amyloid accumulation. Immunofluorescence study showed IgM (+1) and C1q (+1) deposits. Treatment with 1 mg/day colchicine was started. Six weeks later, proteinuria had disappeared and the patient was asymptomatic. Conclusion: This case illustrates the unusual association of FMF with non-amyloid glomerulopathy. Glomerular diseases such as IgM nephropathy may be seen as a manifestation of FMF.

Response to the Letter: The Effects of JJ Stents for Extracorporeal Shock Wave Lithotripsy in Pediatric Urolithiasis (Do JJ Stents Increase the Effectiveness of Extracorporeal Shock Wave Lithotripsy for Pediatric Renal Stones?)

We do agree that the population size was small in our study as mentioned by Yanaral et al. It is only since 2012 that pediatric renal stones are being removed using shock wave lithotripsy in our department, so these results are the first of its kind and further studies with large populations can be performed. We did not need to use statistical analyses for assessing the stone free rate and complications. We still are of the opinion that the percentage of stone free rate and mentioned complications are clear and adequate. In our research, the stone size was under 20 mm (7–15 mm) and as known, it is one of the main factors effecting the success of shock wave lithotripsy. In conclusion, we have similar opinions about preoperative JJ stenting in children with renal stones. However, further studies evaluating larger stone sizes are needed. Disclosure Statement