Familial podocytopathies are a rare group of glomerular disorders characterised by proteinuria. Podocyte damage or dysfunction results in disruption of basement membrane selectivity and structural integrity, and this in turn leads to significant proteinuria. Common familial podocytopathies involve genetic mutations genes encoding nephrin, podocin, a-actinin4, CD2AP, PLCe1 and TRPC6, with inheritance patterns being both autosomal dominant and recessive.1 Proteinuria and underlying renal disease are associated with increased risks of adverse maternal and neonatal outcomes including pre-eclampsia, intrauterine growth restriction and preterm delivery.2
We present a case of pregnancy in a woman with underlying familial podocytopathy who presented at 18 weeks’ gestation with intermittent lower limb, facial and eyelid oedema. Blood pressure was 120/70 and serum albumin 15mmol/L. Urine PCR was within the normal range. She commenced prophylactic enoxaparin, was monitored second weekly and had serial growth scans. At 32 weeks’ gestation, she developed worsening oedema and postural hypotension. Renal function remained stable, as did serum albumin at 15mmol/L. Maternal Fetal Medicine scans demonstrated a drop off in fetal growth velocity. She commenced twice weekly albumin infusions of 20% Albumin (200mls) aiming to maintain a serum albumin of 18mmol/L. Fetal growth tracking initially stabilised, before improving. Her oedema and postural symptoms resolved. Urine PCR increased to 109. She was induced at 38 weeks’ gestation with the delivery of a normally grown infant.
There are a number of management challenges in pregnancies complicated by nephrotic syndrome. This includes, but is not limited to, fetal growth restriction from reduced uteroplacental perfusion due to low colloid oncotic pressure and reduced effective blood volume. Supportive management with albumin infusion may improve placental perfusion and support fetal growth. Pre-existing podocyte damage is the likely mechanism of proteinuria following albumin infusion.