Acute Post Streptococcal Glomerulonephritis with Persistent Hypertension in a Child of Holt-oram Syndrome: A Case Report

Abstract

Holt-Oram syndrome is a rare congenital autosomal dominant disorder caused by a mutation in the TBX5 gene. It is characterised by upper limb abnormalities and congenital heart lesions, such as Atrial Septal Defect (ASD), typically affecting children. In this case, a six-year-old boy presented with facial puffiness and decreased urine output following an upper respiratory infection. Upon examination, he was found to have Holt-Oram syndrome, a rare genetic disorder characterised by abnormalities in the bones of the upper limbs and congenital heart defects. He developed acute Post Streptococcal Glomerulonephritis (PSGN) following a streptococcal infection, resulting in persistent hypertension. Each condition independently poses significant health challenges, and their simultaneous occurrence complicates the clinical picture considerably. Following detailed investigations and management, the child required continued treatment with two antihypertensive medications upon discharge. The need for dual therapy in a paediatric patient highlights the severity of his condition and the challenges in managing it effectively. Close follow-up is essential to monitor disease progression and ensure optimal outcomes. This case features both a genetic disorder (Holt-Oram syndrome due to a TBX5 gene mutation) and an immune-mediated renal disease (PSGN), representing a rare intersection of genetic and postinfectious pathologies. The co-existence of these two conditions is unusual and complicates the clinical picture, necessitating a tailored approach to management. This case underscores the need for a multidisciplinary approach involving cardiology, nephrology, and genetics. Coordinated care is crucial for monitoring disease progression, managing complications, and ensuring comprehensive treatment.

Keywords

• atrial septal defect
• facial puffiness
• respiratory infection