A Puffy Child - A Rare Case of Steroid Resistant Nephrotic Syndrome with ANLN Mutation.

Recent advances in genomics have uncovered the molecular mechanisms involved in the broad spectrum of variation associated with steroid-resistant nephrotic syndrome. Over 50 monogenic causes of steroid-resistant nephrotic syndrome have been discovered; however, these genes are implicated in only a small proportion of cases. Using a combination of whole-exome sequencing and genome-wide linkage studies, a missense mutation in anillin (ANLN) has been identified as a cause of focal segmental glomerulosclerosis, a pattern of glomerular injury associated with steroid-resistant nephrotic syndrome. We report a case of 2-year-6-month-old male child, who presented with severe edema and oliguria for 6 weeks. He was found to be an early steroid non-responder, hence renal biopsy and genetic testing were ordered. These findings were in favour of focal segmental glomerulosclerosis, a common cause of childhood steroid-resistant nephrotic syndrome. It is important to identify the causative agent to avoid unnecessary immunosuppressive therapy and its associated risks.

Atypical haemolytic uraemic syndrome: a case of rare genetic mutation.

Complement-mediated kidney disease has been an evolving area in the field of nephrology. Atypical haemolytic uraemic syndrome (aHUS) is a rare thrombotic microangiopathy that affects multiple organs, particularly kidneys. The disease is characterised by a triad of haemolytic anaemia, thrombocytopenia and acute kidney injury (AKI). aHUS is most commonly caused by dysregulation of alternative complement pathway. In contrast to shiga toxin-associated haemolytic uraemic syndrome, diarrheal prodrome is usually absent in children with aHUS. We report a 2-year, 9-month-old boy who presented with acute dysentery and AKI. He had an unusual prolonged course of illness with hypocomplementaemia; hence, genetic testing was performed. He had a storming course in the hospital and succumbed to complications of the disease. Genetic study revealed digenic mutation in Complement Factor I and C3 Therefore, it is important to differentiate aHUS from other thrombotic microangiopathies to improve the outcome.

Alkaptonuria in an adolescent boy.

Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is one of the Garrod's tetrad of 'inborn errors of metabolism' proposed to have Mendelian recessive inheritance. The disorder is characterised by deposition of homogentisic acid leading to ochronosis and ochronotic osteoarthropathy; however, blackish discoloration of urine is the only childhood manifestation. Other manifestations present only after third decade. A 13-year-old boy presented to paediatric nephrology clinic with blackish discolouration of urine since infancy. Examination revealed bluish black discolouration of bilateral sclera and ear cartilage; however, he had no symptoms of ochronotic osteoarthropathy. Genetic test pointed towards alkaptonuria. Currently, he is on regular follow-up and is being treated with vitamin C to delay the progression of the disease. Early diagnosis with appropriate intervention delays the onset of complications and preserves the quality of life of the patient.

A study on parental awareness of feeding practices in children in the age-group 12-24 months.

Introduction: Nutrition plays an integral part in growth and development of a child. Age-appropriate feeding is known to improve the child's well-being and reduce the risk of specific diseases. The present study aimed to assess the awareness of parents regarding breastfeeding and complementary feeding practices. Methodology: This health-based prospective observational study was conducted in a tertiary care hospital enrolling 95 parents with children in the age group 1-2 years. The data was analyzed using SPSS version 26 and Microsoft excel. Results: In the present study, the prevalence of exclusive breastfeeding was 73.68%. Eighty-six (90.53%) parents initiated complementary feeds at 6 months. However, only 45.26% of children were consuming adequate quantity of complementary foods. The association of child's calorie consumption with maternal age and occupation was found to be statistically significant. Conclusion: Adequate nutrition during childhood and infancy is a key factor influencing growth and development. In the present study, the overall breastfeeding and complimentary feeding practices were satisfactory. However, the quantity of complementary feeding was inadequate. Counselling the mothers on appropriate breastfeeding and complementary feeding practices during antenatal and postnatal visits may have a positive impact on infant feeding practices.