Physical functional capacity assessment in children with chronic kidney disease: A cross sectional observational study.

Background: Chronic kidney disease (CKD) leads to reduced muscle mass and strength in children resulting in a decrease in functional capacity. The objectives of this cross-sectional observational study were to evaluate and compare the functional capacity and muscle strength in children with CKD stage I - V (group A), on dialysis (stage VD) (group B), and kidney transplant recipients (KTR) (group C) in Indian children.

Materials And Methods: 60 children, 20 each in groups A, B, and C were enrolled.

Lipoprotein glomerulopathy: a rare cause of steroid-resistant nephrotic syndrome in a child.

Lipoprotein glomerulopathy (LPG) is a rare condition of renal lipidosis characterized by lipoprotein thrombi in glomeruli, an abnormal plasma lipoprotein profile, and a marked increase in serum apolipoprotein E (apo E) levels. It is a monogenic disorder with autosomal dominant inheritance and the average age of presentation is 32 years (4-69 years). It is rare in children.

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.

Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience.

Background: Three types of primary hyperoxaluria (PH) are recognized. However, data on PH type 2 (PH2), caused by defects in the GRHPR gene, are limited.

Methods: We reviewed the medical records of patients < 18 years of age with genetically-proven PH2 from seven centres across India to identify the age of onset, patterns of clinical presentation, short-term outcomes and genetic profile, and to determine if genotype-phenotype correlation exists.

Clinical utility of genetic testing in Indian children with kidney diseases.

Background: Kidney diseases with genetic etiology in children present with an overlapping spectrum of manifestations. We aimed to analyze the clinical utility of genetic testing in the diagnosis and management of suspected genetic kidney diseases in children.

Methods: In this retrospective study, children ≤ 18 years in whom a genetic test was ordered were included.

Clinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis.

Nephrocalcinosis is a characteristic feature of both type 1 and type 2 Bartter syndrome. Bartter syndrome type 2 presents antenatally and very early in life. Late-onset presentation with isolated nephrocalcinosis is extremely rare.

Coronavirus Disease-2019 in Children with Primary Kidney Disease: A Case series.

Underlying comorbid illness is a known risk factor for severe coronavirus disease-2019 (COVID-19). Clinical course of COVID-19 in children with primary kidney disease is not well understood. We present the clinical profile and management of COVID-19 in three children at a COVID hospital in India.

COVID-19 in children treated with immunosuppressive medication for kidney diseases.

Background: Children are recognised as at lower risk of severe COVID-19 compared with adults, but the impact of immunosuppression is yet to be determined. This study aims to describe the clinical course of COVID-19 in children with kidney disease taking immunosuppressive medication and to assess disease severity.

Methods: Cross-sectional study hosted by the European Rare Kidney Disease Reference Network and supported by the European, Asian and International paediatric nephrology societies.