New insights from the genetic work-up in early onset nephrotic syndrome: report from a registry in western India.

BACKGROUND: Eighty-five percent of infants with congenital nephrotic syndrome (CNS) and 66% with infantile NS (INS) are likely to have a monogenic etiology. There exists a significant genetic variability between different regions and ethnic groups. This study aimed to determine the genetic defects in children with CNS and INS by establishing a registry in western India. METHODS: In this cross-sectional study, pediatric nephrologists from 13 private and government institutions shared relevant clinical data and details of the genetic evaluation of children presenting with NS within the first year of life. RESULTS: The median age at presentation was 9 months (range 1-23, IQR 3-13 months), history of consanguinity between parents existed in 14 patients (34%), family history of similar illness in 6 (15%), and extra-renal manifestations in 17 (41%). Twenty-five (61%) were confirmed to have a monogenic etiology. NPHS1 gene was the most implicated (9/25) followed by PLCE1 (5/25). There were 12 variants of uncertain significance (VUS) involving 10 genes (10/25, 40%), and no definite genetic abnormality was found in 4 (25%). A re-analysis of these VUS attempted 2-3 years later facilitated reclassification of 7/12 (58%); increasing the diagnostic yield from 61 to 68.2%. CONCLUSIONS: Consistent with worldwide data, variants in NPHS1 gene were the most common cause of NS in infancy; however, PLCE1 was implicated more frequently in our cohort. NUP93 and COL4A3 were reported in early onset NS for the first time. Reclassification of VUS should be attempted, if feasible, since it may lead to a useful revision of diagnosis.

Anti-GBM Nephritis in an 11-Year-Old Female Child: A Rare Case Report.

Anti-glomerular basement membrane (GBM) nephritis is a rare autoimmune condition involving the glomerular basement membrane of the kidneys. This case report describes an 11-year-old female who presented with edema, decreased urine output, and altered sensorium, progressing to hypertension and requiring emergent hemodialysis. A renal biopsy showing Immunoglobulin G (IgG) linear deposits confirmed the diagnosis. The patient was treated with intravenous methylprednisolone and antihypertensives and then scheduled for regular dialysis. This case underscores the critical need for early diagnosis and aggressive management to prevent severe complications in pediatric anti-GBM disease.

Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series.

BACKGROUND: There is a paucity of information on epidemiology, diagnosis, and treatment outcomes of congenital nephrotic syndrome (CNS) in developing countries. METHODS: Retrospective (2012-2017) review of case records undertaken across 12 Indian pediatric nephrology centers. RESULTS: Sixty-five children (58% male, median birth weight 2.4 kg [interquartile range (IQR) 2.1-2.86]) were identified with CNS. Nearly half (45%) were preterm with previous history of fetal loss/sibling death in 22% and history of consanguinity in a third. No infective etiology was confirmed. Genetic reports available for 15 (23%) children identified causal mutations in 10 (8 in NPHS1 [1 novel variant], 1 in WT 1 [novel variant], and 1 in PLCE-1 gene). In addition, 1 child was clinically diagnosed as Galloway Mowat syndrome. Next-generation sequencing showed 80% yield and Sanger sequencing 20%. Albumin infusion and angiotensin-converting enzyme inhibitors were used initially in around two-third of cohort, while only 12% of children received indomethacin. Totally, 22 (34%) children were lost to follow-up after initial visit, and among the rest median follow-up was 69 days (IQR 20-180) with 18 (42%) deaths. Eight children showed partial response (including 2 with NPHS1 compound mutation), 1 complete response, and all of them were alive at last follow-up in contrast to 53% mortality among nonresponders, p = 0.004. CONCLUSION: This largest reported series on CNS from India revealed suboptimal management with poor outcome as well as low number of CNS being subjected to genetic evaluation.

Transcutaneous absorption of topically massaged oil in neonates.

OBJECTIVE: To study the transcutaneous absorption of traditionally massaged oil in newborns and to specifically compare the effects of (i) essential fatty acid (EFA) rich - safflower oil and (ii) saturated fat rich coconut oil, on fatty acid profiles of massaged babies. DESIGN: A short term randomised controlled study. SETTING: Tertiary care NICU of a large teaching hospital and a research laboratory of a University complex. METHODS: 120 study babies were randomly assigned to three oil groups (i) safflower oil (n = 40) (ii) coconut oil (n = 40) and (iii) no oil controls (n = 40). In each group, babies were selected in three subsets as per their gestational ages viz (a) less than 34 weeks, (b) 34-37 weeks, (c) greater than 37 weeks. 5 mL of the designated oil was massaged four times a day for five days under controlled conditions of temperature and feeding. Pre and post oil massage samples of blood were analysed for triglycerides and fatty acid profiles using gas chromatography. RESULTS: Post oil triglyceride values were significantly raised in both the oil groups and also in controls. However, the quantum of rise was significantly higher in oil groups as compared to controls. Fatty acid profiles (gas chromatography) showed significant rise in EFAs (linolenic acid and arachidonic acid) in safflower oil group and saturated fats in coconut oil group. Changes were more evident in term babies. There were no side effects associated with the massage. CONCLUSIONS: This study shows that topically applied oil can be absorbed in neonates and is probably available for nutritional purposes. The fatty acid constituents of the oil can influence the changes in the fatty acid profiles of the massaged babies.