Child Kidney Dis.  2022 Dec;26(2):111-115. 10.3339/ckd.22.039.

Kleefstra syndrome combined with vesicoureteral reflux and rectourethral fistula: a case report and literature review

• Lee CW
• Park MJ
• Lee EJ
• Lee S
• Park J
• Lee JN
• Lee SM
• Jeong SY
• Cho MH

• KMID: 2538744
• DOI: http://doi.org/10.3339/ckd.22.039

Abstract

Kleefstra syndrome is a rare genetic disease characterized by mental retardation, hypotonia, and a characteristic facial appearance. Furthermore, in some cases, Kleefstra syndrome is associated with various anorectal and genitourinary complications, including imperforated anus, vesicoureteral reflux, hydronephrosis, and chronic kidney disease. Herein, we present a case of Kleefstra syndrome with recurrent urinary tract infections associated with vesicoureteral reflux and rectourethral fistula, which was treated by a multidisciplinary approach.

Keyword

Case reports; Child; Kleefstra syndrome; Rectourethral fistula; Urinary tract infections; Vesico-ureteral reflux

Figure

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  Fig. 1. The patient showed ambiguous genitalia at birth.

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  Fig. 2. Microarray test revealing a microdeletion in 9q34.3 which involves part of the euchromatic histone lysine methyltransferase 1 (EHMT1) gene known to be associated with Kleefstra syndrome.

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  Fig. 3. Radiological examination findings. (A) Loopogram showing high or intermediate-type imperforated anus with rectourethral fistula. (B) Voiding cystourethrography showing bilateral vesicoureteral reflux combined with simultaneous visualization of the rectum.

Reference

References

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