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.

Background: Acute kidney injury (AKI) is a common clinical syndrome in hospitalized children and it imposes heavy burden of mortality and morbidity. In resource-constraint settings, management of AKI is very challenging and associated with adverse outcomes. The aim of this study was to determine the clinicoetiological profile and outcome of AKI.Methodology: This prospective observational study was done at the department of pediatric nephrology and pediatric intensive care unit, National Institute of Child Health, Karachi, Pakistan from December 2020 to May 2021. A total of 130 children aged 1 month to 15 years, diagnosed with AKI irrespective of the underlying cause were included. Detailed medical information of each child including medical history, examination, and baseline investigations were obtained. Clinical and etiological profile of patients was noted. The patients were followed up to three months and the outcome was noted.Results: In a total of 130 children, 82 (63.1%) were male. The mean age was 5.5±4.4 years (ranging between 1 month and 15 years). There were 117 (90.0%) children who were referred from other centers for either dialysis or surgical treatment. Prerenal cause of AKI was found in 66 (50.8%) children, followed by renal 53 (40.8%) and postrenal in 11 (8.5%) cases. Fever and shortness of breath were the most common clinical presenting symptoms in 102 (78.5%) and 100 (76%) cases, respectively. There were 45 (34.6%) cases who were managed conservatively, 80 (61.5%) needed dialysis, while three children were managed with plasmapheresis and two required surgical intervention in the emergency department. At threemonth follow-up period, 64 (49.2%) children recovered (including nine with partial recovery), 46 (36.1%) expired, 9 (6.9%) developed end-stage renal disease, while 11 (8.5%) had chronic kidney disease. Conclusion: Sepsis, nephrotoxic drugs, and acute glomerulonephritis were the major causes of AKI at our center. Mortality was high among children presenting with AKI. A relatively high proportion of children with younger age, septic AKI, and presentation in critical condition could be the reasons for this high mortality.

Objectives:First objective was to compare eGFR by Updated Schwartz (US) and Simple Height Independent (SHID) formula with Original Schwartz (OS) in children with Severe Acute Malnutrition (SAM). The second objective was to compare eGFR in children below and above two years.Methods:This analytic study on estimation of GFR was based on retrospective data collected from 78 children with SAM at Nutritional Rehabilitation Unit from October 2014 - March 2015. Glomerular filtration rate was calculated using serum creatinine (S. Cr) and height in Original Schwartz, US and by age in SHID equation and compared with OS as standard. Data was analyzed using descriptive statistics.Results:There were 78 children in this study. Males were 39(50%). Mean age of patients was 18±15.53 months with 62(79.48%) ≤24 months. Mean weight, height and Mid Upper Arm Cir-cumference was 5.69±2.42kg, 68.52+13.59 cm and 10±1.57 cm respectively. Mean eGFR by OS, US and SHID formula was 71.45±49.89, 58.06±3.91 and 59.33±3.73ml/min/1.73m2 respectively. There was significant difference (0.001) in mean eGFR calculated by three different formulae. Majority of children (73%) had subnormal GFR (<90 ml/min /1.73 m2). There was a significant difference in GFR ≥90ml calculated by US compared to OS (0.025) and by SHID with OS (0.04) in children below two years and no difference in children above two years. But there was no difference in other categories of eGFR calculated by either of formula in both age groups.Conclusion:We found a significant difference in eGFR in ranges above 90 ml/min/1.73 m2 by US compared to OS as well as by SHID with OS in children below two years and no difference in children above two years. Also, there was no difference in GFR categories below 90 ml/min /1.73 m2 calculated by either of formula in both age groups. So, we may conclude that either of formula can be used in clinical practice for eGFR in mild to severe renal dysfunction in severely malnour-ished children.

Objective: To describe the clinical spectrum of presentation and outcome of children with congenital thoracic malformations beyond neonatal age. Methodology: Cross sectional study conducted at inpatient department of National institute of child health from Jan-Dec 2021. All patients hospitalized in study duration with diagnosis of congenital thoracic formations from 1 month till 12 years of age were enrolled. History, examination, laboratory tests, treatment and outcome were recorded. Results: Total 44 children were enrolled with mean age of 7.7+10.8 months. Common congenital thoracic malformations were congenital diaphragmatic hernia 24(54.5%), congenital cystic adenomatoid malformation 6(13.6%), congenital lobar emphysema5(11.4%) and eventration of diaphragm 4(9.1%). Three (6.9%) patients had associated cardiac anomalies. Surgical intervention was done in 33 (75%) patients with a postoperative survival rate of 95.4%. Conclusion: Congenital diaphragmatic hernia and cystic adenomatoid malformation are common congenital thoracic malformations that present beyond neonatal age and are associated with good postsurgical outcome. Keywords: congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, beyond neonate