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Abstract: SA-PO461

Renal Complications in Congenital Anomaly Syndrome Patients with Genetic Variants

Session Information

  • Pediatric Nephrology - II
    October 27, 2018 | Location: Exhibit Hall, San Diego Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

  • 1600 Pediatric Nephrology


  • Uehara, Tomoko, Keio University School of Medicine, Shinjuku-ku, TOKYO, Japan
  • Suzuki, Hisato, Keio University School of Medicine, Shinjuku-ku, TOKYO, Japan
  • Takenouchi, Toshiki, Keio University, Tokyo, Japan
  • Kosaki, Kenjiro, Keio University, Tokyo, Japan

Early detection and early treatment of renal complications of patients with intellectual disabilities are critical for predicting their prognosis. However, phenotypes of kidney diseases are usually silent and, therefore, it is difficult to make early diagnosis. We assessed the renal complications among patients with intellectual disabilities.


1211 patients who showed intellectual disabilities and congenital anomalies and their parents were recruited through the Japanese nation-wide undiagnosed disease program, Initiative on Rare and Undiagnosed Diseases (IRUD). Whole blood was collected from them after informed consent. Comprehensive genetic diagnosis was performed by medical exome sequencing (MES; Illumina TruSightOne, Illumina MiSeq) or whole exome sequencing (WES; Agilent SureSelect, Illumina HiSeq2000). Variants detected by the sequencer were filtered on quality, frequency, segregation pattern, previous reports, and genetic function and were confirmed by Sanger sequencing.


Diagnoses were made in 417 patients (34.4 %) and renal complications were presented in 41(9.8 %) of these 417 patients. Among these 41 patients, kidney hypoplasia was present in seven patients, vesicoureteral reflux was present in one patients, hydronephrosis was present in seven patients, and multiple cystic kidney disease was present in one patient. Sequence analyses identified constitutional variants including AUTS2, CHD7, CREBBP, EFTUD2, GNB1, KAT6A, KAT6B, KMT2A, KMT2D, MAGEL2, PBX1, PURA, and UBE3B.


Renal phenotypes were not rare but critical complications of patients with congenital anomaly syndromes. Various types of kidney diseases were present in them and most of these diseases were able to be detected by urinary test or kidney echogram. However, it is difficult to make early diagnosis and early treatment of kidney complications if they were not taken into doctor’s considerations. Furthermore, there were not only disease with high incidence of kidney phenotypes like CHARGE syndrome, or Rubinstein-Taybe syndrome, but also diseases with low incidence of kidney diseases, such as Kabuki syndrome or Cornelia de Lange syndrome. Taken together, to perform both urinary test and kidney echogram at least once may be need for patients with congenital anomaly syndromes to be made early detection and treatment of kidney diseases.


  • Government Support - Non-U.S.