Kidney involvement in the Townes-Brocks syndrome. Literature review and clinical observation
https://doi.org/10.28996/2618-9801-2023-1-102-110
Abstract
Townes-Brocks syndrome (TBS, OMIM #107480) is a rare disease with autosomal dominant inheritance caused by pathogenic variants in the SALL1 gene. TBS is characterized by a variable combination of congenital anomalies, the major of which are imperforate anus, dysplastic ears, and thumb malformations. Due to the essential role of SALL1 in kidney development as a transcription factor, congenital anomalies of the kidney and urinary tract (CAKUT) could be also observed in patients with TBS. They belong to the minor signs of the syndrome, such as hearing loss, foot malformations, ocular features, and congenital heart disease. In this article, we present a clinical observation of a child with renal involvement as an exhibition of TBS with the absence of the full classical triad. The child had only one (bifid thumb) out of 3 major features, 2 minor signs (bilateral kidney hypoplasia, iris defect), and tubular dysfunction (low-molecular proteinuria, glucosuria). Progression to CKD grade 3а (eGFR 52 ml/min/1.73 m2) in the index case was remarkable. The whole exome sequencing identified a novel heterozygous nonsense variant (chr16:51175421G>A) с.712С>T (p.Gln238Ter) in the SALL1 gene, which was validated by Sanger sequencing, and diagnosis of TBS was confirmed. The same SALL1 variant (chr16:51175421G>A) was identified in her mother with a combination of clinical futures of the syndrome, such as bilateral kidney hypoplasia with decreased glomerular filtration (eGFR 40.3 ml/min/1.73 m2), that suggested a familiar case of TBS.
About the Authors
A. M. Khokhlova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
V. A. Obukhova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
V. V. Dlin
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
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For citations:
Khokhlova A.M., Obukhova V.A., Dlin V.V. Kidney involvement in the Townes-Brocks syndrome. Literature review and clinical observation. Nephrology and Dialysis. 2023;25(1):102-110. (In Russ.) https://doi.org/10.28996/2618-9801-2023-1-102-110
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