scholarly journals Case Report: Denys–Drash Syndrome With WT1 Causative Variant Presenting as Atypical Hemolytic Uremic Syndrome

2020 ◽  
Vol 8 ◽  
Author(s):  
Cheng Cheng ◽  
Lizhi Chen ◽  
Sijia Wen ◽  
Zhilang Lin ◽  
Xiaoyun Jiang

The WT1 variant is confirmed to be pathogenic for Denys–Drash syndrome (DDS), a rare disorder characterized by early-onset nephrotic syndrome and renal failure, pseudo-hermaphroditism, and a high risk of Wilms' tumor. Several cases of DDS presenting with atypical hemolytic uremic syndrome (aHUS) have been reported. Here we report the case of a 2-year-old child who was diagnosed with WT1 missense variant, associated with DDS and initial presentation of aHUS. Complement factor H autoantibodies were negative. Complement regulatory system-related gene variants were not found, but a de novo heterozygous c.754G>A missense variant in exon 9 of WT1 gene was detected, resulting in a p. Asp252Asn substitution, by next-generation sequencing. The patient was a female morphologically but proved to be a genetic male because of karyotype 46, XY with normally developed female external genitalia. Bilateral nephrectomy and renal transplantation were performed 1 year later, and there was no recurrence of aHUS at 10 months after transplantation.

2006 ◽  
Vol 27 (3) ◽  
pp. 292-293 ◽  
Author(s):  
Stefan Heinen ◽  
Pilar Sanchez-Corral ◽  
Michael S Jackson ◽  
Lisa Strain ◽  
Judith A. Goodship ◽  
...  

Nephron ◽  
2017 ◽  
Vol 138 (4) ◽  
pp. 324-327 ◽  
Author(s):  
Hironori Nakamura ◽  
Mariko Anayama ◽  
Mutsuki Makino ◽  
Yasushi Makino ◽  
Katsuhiko Tamura ◽  
...  

2021 ◽  
Vol 8 ◽  
Author(s):  
Lara Kollbrunner ◽  
Patricia Hirt-Minkowski ◽  
Javier Sanz ◽  
Elena Bresin ◽  
Thomas J. Neuhaus ◽  
...  

Lipoprotein glomerulopathy (LPG) is a rare inherited disease caused by mutations in the APOE gene, encoding apolipoprotein E (apoE). Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by overactivation of the alternative complement pathway. Here we report the case of a 21-year-old man with LPG who developed aHUS. A functional complement assay demonstrated an overactivation of the complement system. Complementary genetic analysis revealed a homozygous aHUS risk allele for complement factor-H related 1 (CFHR1), CFHR1*B. To the best of our knowledge, this is the first report of an aHUS in a patient with LPG.


2000 ◽  
Vol 66 (5) ◽  
pp. 1721-1722 ◽  
Author(s):  
Mark R.H. Buddles ◽  
Rosemary L. Donne ◽  
Anna Richards ◽  
Judith Goodship ◽  
Timothy H.J. Goodship

Author(s):  
Zeynep Yürük Yıldırım ◽  
Alev Yılmaz ◽  
Sevinç Emre ◽  
Ilmay Bilge ◽  
Bağdagül Yavaş Aksu ◽  
...  

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