Townes-Brocks综合征（SALL1突变）中的肾病：成人期影像学和病理表现
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood.
作者信息
Faguer Stanislas, Pillet Adèle, Chassaing Nicolas, Merhenberger Marion, Bernadet-Monrozies Pauline, Guitard Joëlle, Chauveau Dominique
机构信息
Service de Néphrologie et Immunologie clinique, Hôpital de Rangueil, 1 avenue Jean Poulhès, TSA 50032, 31059 Toulouse Cedex 9, France.
出版信息
Nephrol Dial Transplant. 2009 Apr;24(4):1341-5. doi: 10.1093/ndt/gfp014. Epub 2009 Feb 9.
BACKGROUND
Townes-Brocks syndrome (TBS) is a rare autosomal dominant disease, resulting from mutation in the developmental gene SALL1. The phenotype encompasses malformations of limbs (triphalangeal thumbs and pre-axial polydactyly), intestine (anal stenosis) and ears (dysplastic ear with perception hearing loss). Renal involvement (hypo-dysplasia, multicystic kidneys or unilateral absence) is observed in almost half of patients and may progress to end-stage renal failure in childhood.
METHODS
Herein, we report two adult patients diagnosed with TBS at age 28 and 35.
RESULTS
Both exhibited severe chronic renal failure and kidney hypodysplasia by imaging studies while focal and segmental glomerulosclerosis (FSGS) was demonstrated in one case.
CONCLUSION
Regular assessment of glomerular filtration rate is mandatory throughout life in all TBS patients.
背景
汤姆斯-布罗克斯综合征（TBS）是一种罕见的常染色体显性疾病，由发育基因SALL1突变引起。其表型包括肢体畸形（三指节拇指和轴前多指）、肠道畸形（肛门狭窄）和耳部畸形（发育不良耳伴感音神经性听力损失）。几乎一半的患者存在肾脏受累（发育不全、多囊肾或单侧肾缺如），且可能在儿童期进展为终末期肾衰竭。
方法
在此，我们报告两名分别于28岁和35岁被诊断为TBS的成年患者。
结果
影像学检查显示两名患者均有严重慢性肾衰竭和肾脏发育不全，其中一例显示局灶节段性肾小球硬化（FSGS）。
结论
所有TBS患者一生都必须定期评估肾小球滤过率。
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