Congenital nephrotic syndrome: A diagnostic and management dilemma

Abstract

Congenital nephrotic syndrome (CNS) is characterised by heavy proteinuria, hypoproteinaemia and oedema presenting in the first 3 months of life. We present a 27-day-old female patient admitted to the Inkosi Albert Luthuli Central Hospital with CNS; one of twins and HIV exposed but uninfected. The child had a cytomegalovirus (CMV) polymerase chain reaction (PCR) positive result in the urine, confirmed on two separate occasions. The CMV PCR for qualitative testing of CMV DNA was negative and quantitative testing was not done. CMV retinitis and central nervous system involvement were absent. Despite treatment with gancyclovir, the CNS did not improve. Further management required indomethacin followed by unilateral nephrectomy to decrease administration of albumin infusions to control oedema. Unfortunately, due to loss to follow-up, the patient demised from probable sepsis. We discuss the challenges we faced with respect to the diagnosis and management of CNS in a resource-limited setting where transplantation is not readily available.