Infant Journal
for neonatal and paediatric healthcare professionals

Neonatal Research Priority Setting Partnership: help wanted

Katie Evans
Neonatal Research Priority Setting Partnership Project Co-ordinator and Clinical Research Fellow in Neonatal Medicine at Chelsea and Westminster Hospital
katie.evans7@nhs.net

Chris Gale
Academic Neonatologist and Neonatal Society Meeting Secretary

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Keywords
congenital nephrotic syndrome; genetics congenital renal abnormality;
Key points
  1. It is important to further investigate any symptoms that do not fit with an initial diagnosis.
  2. The genetic basis for congenital nephrotic syndrome (CNS) is becoming better defined and testing is more readily available.
  3. The NPHS1 gene encodes nephrin and is implicated in autosomal recessive Finnish-type CNS.
  4. CNS can also be caused by genetic defects in NPHS2, LAMB2 and WT1 genes.