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Finnish-type congenital nephropathy

Genetics: - atuosomal recessive - associated with defects in NEPH1, NEPH2 [1] Clinical manifestations: - severe perinatal nephrotic syndrome - ESRD [1] Management: - renal transplantation [1]

General

genetic disease of the kidney

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 17, 18. American College of Physicians, Philadelphia 2015. 2018.