We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.
- Authors
Eichinger, Anna; Ponsel, Sabine; Bergmann, Carsten; Günthner, Roman; Hoefele, Julia; Amann, Kerstin; Lange-Sperandio, Bärbel
- Abstract
Background: Congenital nephrotic syndrome (CNS) is primarily a monogenetic disease, with the majority of cases due to changes in five different genes: the nephrin (NPHS1), podocin (NPHS2), Wilms tumor 1 (WT1), laminin ß2 (LAMB2), and phospholipase C epsilon 1 (PLCE1, NPHS3) gene. Usually CNS is not responsive to immunosuppressive therapy, but treatment with ACE inhibitors, AT1 receptor blockade and/or indomethacin can reduce proteinuria. If the disease progresses to end-stage renal disease, kidney transplantation is the therapy of choice.Case-Diagnosis: Here, we present the case of a 4-month-old girl with congenital nephrotic syndrome. Upon admission, the patient presented with life-threatening anasarca, hypoalbuminemia, proteinuria, and impaired growth. There was no evidence of an infectious or immunological etiology. The genetic evaluation revealed a heterozygous variant in NPHS1 (p.Arg207Trp), in NPHS2 (p.Ser95Phe) as well as in PLCE1 (p.Ala1045Ser) and did not explain CNS. In addition to daily parenteral albumin infusions plus furosemide, a pharmacological antiproteinuric therapy was started to reduce protein excretion. Based on the genetic results, immunosuppressive therapy with prednisolone was initiated, but without response. However, following cyclosporine A treatment, the patient achieved complete remission and now has good renal function, growth, and development.Conclusions: A profound search for the cause of CNS is necessary but has its limitations. The therapeutic strategy should be adapted when the etiology remains unclear.
- Subjects
CYCLOSPORINE; KIDNEY physiology; FUROSEMIDE; IMMUNOSUPPRESSIVE agents; PREDNISOLONE; BLOOD protein disorders; EDEMA; NEPHROTIC syndrome; PROTEINURIA; TREATMENT effectiveness; DISEASE remission; GENETICS; THERAPEUTICS
- Publication
Pediatric Nephrology, 2018, Vol 33, Issue 7, p1269
- ISSN
0931-041X
- Publication type
Article
- DOI
10.1007/s00467-018-3961-z