Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN).

Multinational studies have reported monogenic etiologies in 25%-30% of children with steroid-resistant nephrotic syndrome. Such large studies are lacking in Asia. We established Deciphering Diversities: Renal Asian Genetics Network (DRAGoN) and aimed to describe the genetic and clinical spectrums in Asians. We prospectively studied a cohort of 183 probands with suspected genetic glomerulopathies from South and Southeast Asia, of whom 17% had positive family history. Using multi-gene panel sequencing, we detected pathogenic variants in 26 (14%) probands, of whom one-third had COL4A4 or COL4A5 variants (n = 9, 5%). Of those with COL4A5 defects, only 25% had features suggestive of Alport syndrome. Besides traditional predictors for genetic disease (positive family history and extrarenal malformations), we identified novel predictors, namely older age (6.2 vs. 2.4 years; p = 0.001), hematuria (OR 5.6; 95% CI 2.1-14.8; p < 0.001), and proteinuria in the absence of nephrotic syndrome (OR 4.6; 95% CI 1.8-11.8; p = 0.001) at first manifestation. Among patients who first presented with proteinuria without nephrotic syndrome, the genetic diagnostic rates were >60% when a second risk factor (positive family history or extrarenal manifestation) co-existed. The genetic spectrum of glomerulopathies appears different in Asia. Collagen IV genes may be included in sequencing panels even when suggestive clinical features are absent.

Bone mineral density in children with relapsing nephrotic syndrome: A hospital-based study.

This cross-sectional analytical study was conducted from January 2012 to November 2014 in the Department of Pediatric Nephrology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh, to evaluate the bone mineral density (BMD) values in children with relapsing nephrotic syndrome (NS). Thirty relapsing nephrotic patients were enrolled in this study. They were divided into two groups: Group I - Frequent Relapse (FR) with 21 patients and Group II - Infrequent Relapse (IFR) with nine patients. Children included were both males and females aged between four and 15 years with relapsing NS with normal renal function. Steroid-resistant NS or those with abnormal renal functions or who were on cyclosporine and calcium supplement with Vitamin D or children with secondary NS were excluded from the study. All the study population underwent dual-energy X-ray absorptiometry scan to see the BMD value. Mean age of the patients of Group I (8.43 ± 2.61 years) was lower than that of Group II (9.41 ± 2.94 years (P = 0.4043). Mean BMD Z-scores of Group I was significantly lower than that of Group II (-2.70 ± 1.28 vs. -1.30 ± 1.54, respectively; P = 0.0317). A significantly higher cumulative dose of prednisolone was administered to Group I compared with Group II (P = 0.00003). On multivariate analysis, the total dose of prednisolone (P = 0.03693), body mass index (BMI) (P = 0.00703), and age of onset of disease (P = 0.03465) had a linear relationship with dependent variable BMD Z-score. On univariate regression analysis, statistically significant inverse relationship was observed between cumulative dose of prednisolone (in grams) (P = 0.049) and BMI (P = 0.00) with BMD Z-score, but no relation was observed with duration of illness. Children with relapsing NS, especially those receiving higher doses of steroids, were at risk for low BMD.

Multiple Loculated Peritoneal Abscesses in a Child with Nephrotic Syndrome: A Rare Presentation.

Infection in nephrotic syndrome (NS) is an important cause of mortality and morbidity, especially during corticosteroid therapy. Delayed diagnosis and treatment of these infections can result in some severe consequences. Common infections are peritonitis, meningitis, pneumonitis, and cellulitis. They may even cause abdominal abscess formation. Although literature review reveals abdominal abscesses in NS, multiple loculated peritoneal abscesses are rare in childhood NS. Here, we report a case of multiple loculated peritoneal abscesses in an 8-year-old male child with NS.