Abstract
Mutation of the Wilms tumor suppressor gene (WT1) has been recognized as one of the etiologies of steroid-resistant nephrotic syndrome (SRNS). The mutation is also responsible for gonadal dysgenesis in 46,XY individuals. Early recognition of the presence of Y chromosome is of particular importance because of the high risk of gonadal tumor. We present here three cases of steroid-resistant nephrotic syndrome with WT1 mutation and 46,XY karyotype. Patient 1 and 2 have intron splice site (IVS9+5G > A) mutation. Patient 3 has c.1301G>A (p. R434H) mutation. All cases had normal female external genitalia at birth and eluded the diagnosis of gonadal dysgenesis until later in life. We suggest that chromosomal analysis should be promptly performed in female patients with early-onset steroid-resistant nephrotic syndrome.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 341-344 |
| Number of pages | 4 |
| Journal | Clinical Nephrology |
| Volume | 86 |
| Issue number | 6 |
| DOIs | |
| State | Published - 2016 |
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Keywords
- Delayed puberty
- Gonadal dysgenesis
- Kidney transplant
- Renal failure
- WT1
ASJC Scopus subject areas
- Nephrology
Cite this
Early recognition of gonadal dysgenesis in congenital nephrotic syndrome. / Ukarapong, Supamit; Berkovitz, Gary; McElreavey, Kenneth; Bashamboo, Anu; Bao, Yong.
In: Clinical Nephrology, Vol. 86, No. 6, 2016, p. 341-344.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Early recognition of gonadal dysgenesis in congenital nephrotic syndrome
AU - Ukarapong, Supamit
AU - Berkovitz, Gary
AU - McElreavey, Kenneth
AU - Bashamboo, Anu
AU - Bao, Yong
PY - 2016
Y1 - 2016
N2 - Mutation of the Wilms tumor suppressor gene (WT1) has been recognized as one of the etiologies of steroid-resistant nephrotic syndrome (SRNS). The mutation is also responsible for gonadal dysgenesis in 46,XY individuals. Early recognition of the presence of Y chromosome is of particular importance because of the high risk of gonadal tumor. We present here three cases of steroid-resistant nephrotic syndrome with WT1 mutation and 46,XY karyotype. Patient 1 and 2 have intron splice site (IVS9+5G > A) mutation. Patient 3 has c.1301G>A (p. R434H) mutation. All cases had normal female external genitalia at birth and eluded the diagnosis of gonadal dysgenesis until later in life. We suggest that chromosomal analysis should be promptly performed in female patients with early-onset steroid-resistant nephrotic syndrome.
AB - Mutation of the Wilms tumor suppressor gene (WT1) has been recognized as one of the etiologies of steroid-resistant nephrotic syndrome (SRNS). The mutation is also responsible for gonadal dysgenesis in 46,XY individuals. Early recognition of the presence of Y chromosome is of particular importance because of the high risk of gonadal tumor. We present here three cases of steroid-resistant nephrotic syndrome with WT1 mutation and 46,XY karyotype. Patient 1 and 2 have intron splice site (IVS9+5G > A) mutation. Patient 3 has c.1301G>A (p. R434H) mutation. All cases had normal female external genitalia at birth and eluded the diagnosis of gonadal dysgenesis until later in life. We suggest that chromosomal analysis should be promptly performed in female patients with early-onset steroid-resistant nephrotic syndrome.
KW - Delayed puberty
KW - Gonadal dysgenesis
KW - Kidney transplant
KW - Renal failure
KW - WT1
UR - http://www.scopus.com/inward/record.url?scp=85007241914&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85007241914&partnerID=8YFLogxK
U2 - 10.5414/CN108925
DO - 10.5414/CN108925
M3 - Article
VL - 86
SP - 341
EP - 344
JO - Clinical Nephrology
JF - Clinical Nephrology
SN - 0301-0430
IS - 6
ER -