Sharma Sheena, Kalish Jennifer M, Goldberg Ethan M, Reynoso Francis Jeshira, Pradhan Madhura
Division of Nephrology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; The Department of Pediatrics, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.
Case Rep Nephrol. 2016;2016:3181676. doi: 10.1155/2016/3181676. Epub 2016 Aug 29.
Background. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1) gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15-50% of patients with OFD1 progress to end-stage kidney disease following development of polycystic changes within the kidneys. This condition almost always causes intrauterine lethality in males. Description of Case Diagnosis and Treatment. A Caucasian male aged 9 years and 9 months presented with increased urinary frequency, increased thirst, and decreased appetite. Physical examination demonstrated short stature, hearing loss, photophobia, murmur, and hypogonadism. He had no other dysmorphic features. Laboratory results revealed anemia, renal insufficiency, and dilute urine with microscopic hematuria but no proteinuria. Ultrasound showed small kidneys with increased echogenicity but no evidence of cystic changes. A Ciliopathy Panel showed a novel and likely pathogenic deletion, approximately 7.9 kb, in the OFD1 gene encompassing exons 16, 17, and 19 (c.1654+833_2599+423del). Brain MRI did not demonstrate typical OFD1 findings. He is currently on chronic hemodialysis awaiting transplant from a living donor. Conclusions. We present a male patient with OFD1 mutation who lacks the classic OFD1 phenotype who presented with end-stage renal disease without evidence of polycystic changes within the kidneys.
背景。1型口面指综合征（OFD1）是一种罕见的X连锁显性遗传病，由Cxorf5（OFD1）基因突变引起。该基因编码位于初级纤毛中心体和基体中的OFD1蛋白。约15%至50%的OFD1患者在肾脏出现多囊性改变后会发展为终末期肾病。这种疾病几乎总是导致男性宫内死亡。病例诊断与治疗描述。一名9岁9个月的白人男性出现尿频、口渴增加和食欲减退。体格检查显示身材矮小、听力丧失、畏光、心脏杂音和性腺功能减退。他没有其他畸形特征。实验室检查结果显示贫血、肾功能不全，尿液稀释且镜下血尿但无蛋白尿。超声显示双肾体积小、回声增强，但无囊性改变的证据。一项纤毛病检测显示OFD1基因存在一个新的且可能致病的缺失，约7.9 kb，涵盖外显子16、17和19（c.1654 + 833_2599 + 423del）。脑部MRI未显示典型的OFD1表现。他目前正在接受慢性血液透析，等待活体供体移植。结论。我们报告了一名患有OFD1突变的男性患者，他缺乏典型的OFD1表型，表现为终末期肾病，且肾脏无多囊性改变的证据。
