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Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation.

Yu Z, Yang Y, Feng D - Clin Kidney J (2012)

Bottom Line: Mutations in the WT1 gene, leading to Denys-Drash syndrome and Frasier syndrome, can also cause isolated steroid-resistant nephrotic syndrome (ISRNS).Previous studies have reported six pairs of monozygotic twins with WT1 mutations, including one presenting with discordant phenotypes with identical WT1 mutations being of paternal origin and five pairs of monozygotic twins presenting the same phenotype with identical WT1 mutations.In this study, we report on female monozygotic twins showing discordant phenotypes with an identical de novo WT1 mutation, R394W, and presenting incomplete Denys-Drash syndrome and ISRNS.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Fuzhou Dongfang Hospital, Fuzhou, P. R. China ; Department of Pediatrics, Fuzhou Clinical Medical College, Fujian Medical University, Fuzhou, P. R. China ; Department of Pediatrics, Dongfang Hospital, Xiamen University, Fuzhou, Fujian, P. R. China.

ABSTRACT
Mutations in the WT1 gene, leading to Denys-Drash syndrome and Frasier syndrome, can also cause isolated steroid-resistant nephrotic syndrome (ISRNS). Previous studies have reported six pairs of monozygotic twins with WT1 mutations, including one presenting with discordant phenotypes with identical WT1 mutations being of paternal origin and five pairs of monozygotic twins presenting the same phenotype with identical WT1 mutations. In this study, we report on female monozygotic twins showing discordant phenotypes with an identical de novo WT1 mutation, R394W, and presenting incomplete Denys-Drash syndrome and ISRNS.

No MeSH data available.


Related in: MedlinePlus

Pedigree of a Chinese family with steroid-resistant nephrotic syndrome.
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fig1: Pedigree of a Chinese family with steroid-resistant nephrotic syndrome.

Mentions: Twin A (Figure 1 (III4)) was admitted to the Department of Pediatrics, Fuzhou Dongfang Hospital, P. R. China for evaluation of edema at the age of two. A urine dipstick revealed 3+ albumin. Serum albumin was 22.8 g/L and creatinine 48 μmol/L. She failed to respond to 6 weeks of prednisone therapy (2 mg/kg/24 h). At the age of 3.49 years, she also presented with a right abdominal mass. Kidney ultrasound revealed a 9.85 cm by 8.32 cm Wilms' tumor in the right kidney, confirmed by computed tomography scan (Figure 2). She was diagnosed with incomplete DDS and died at the age of 3.50 years due to renal failure.


Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation.

Yu Z, Yang Y, Feng D - Clin Kidney J (2012)

Pedigree of a Chinese family with steroid-resistant nephrotic syndrome.
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4400508&req=5

fig1: Pedigree of a Chinese family with steroid-resistant nephrotic syndrome.
Mentions: Twin A (Figure 1 (III4)) was admitted to the Department of Pediatrics, Fuzhou Dongfang Hospital, P. R. China for evaluation of edema at the age of two. A urine dipstick revealed 3+ albumin. Serum albumin was 22.8 g/L and creatinine 48 μmol/L. She failed to respond to 6 weeks of prednisone therapy (2 mg/kg/24 h). At the age of 3.49 years, she also presented with a right abdominal mass. Kidney ultrasound revealed a 9.85 cm by 8.32 cm Wilms' tumor in the right kidney, confirmed by computed tomography scan (Figure 2). She was diagnosed with incomplete DDS and died at the age of 3.50 years due to renal failure.

Bottom Line: Mutations in the WT1 gene, leading to Denys-Drash syndrome and Frasier syndrome, can also cause isolated steroid-resistant nephrotic syndrome (ISRNS).Previous studies have reported six pairs of monozygotic twins with WT1 mutations, including one presenting with discordant phenotypes with identical WT1 mutations being of paternal origin and five pairs of monozygotic twins presenting the same phenotype with identical WT1 mutations.In this study, we report on female monozygotic twins showing discordant phenotypes with an identical de novo WT1 mutation, R394W, and presenting incomplete Denys-Drash syndrome and ISRNS.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Fuzhou Dongfang Hospital, Fuzhou, P. R. China ; Department of Pediatrics, Fuzhou Clinical Medical College, Fujian Medical University, Fuzhou, P. R. China ; Department of Pediatrics, Dongfang Hospital, Xiamen University, Fuzhou, Fujian, P. R. China.

ABSTRACT
Mutations in the WT1 gene, leading to Denys-Drash syndrome and Frasier syndrome, can also cause isolated steroid-resistant nephrotic syndrome (ISRNS). Previous studies have reported six pairs of monozygotic twins with WT1 mutations, including one presenting with discordant phenotypes with identical WT1 mutations being of paternal origin and five pairs of monozygotic twins presenting the same phenotype with identical WT1 mutations. In this study, we report on female monozygotic twins showing discordant phenotypes with an identical de novo WT1 mutation, R394W, and presenting incomplete Denys-Drash syndrome and ISRNS.

No MeSH data available.


Related in: MedlinePlus