Spontaneous Remission In A Child With An Nphs1-based Congenital Nephrotic Syndrome

Abstract

Congenital nephrotic syndrome (CNS) refers to disease present-ing within the first 3 months of life. Mutations in five different genes ( NPHS1 , NPHS2 , PLCE1 , WT1 and LAMB2 ) are responsible for > 80% of cases [1]. The disease is classically considered as irreversible, progressing in early infancy to end-stage renal disease (ESRD). Although some NPHS1 mutations have been associated with a more favorable evolution [2], only anecdotal cases of spontaneous remission have been reported. We present an 11-day-old male term neonate who was ad-mitted in hospital with a generalized seizure. Pregnancy ultra-sounds were normal; no polyhydramnios or placental edema was reported. Nuclear magnetic resonance imaging diagnosed a cerebral venoussinusthrombosis.Physicalexaminationshowed palpebral and lower limb edema. Laboratory tests showed albumin 0.5 g/dL, total proteins 3.2 g/dL,