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Abstract: SA-PO460

Genomic Disorders, CKD, and Neurocognitive Status in Youth

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


  • Fernandez, Hilda E., Columbia University, New York, New York, United States
  • Kirschner, Emma, Columbia University, New York, New York, United States
  • Groopman, Emily, Columbia University, New York, New York, United States
  • Reingold, Rachel E., Columbia University, New York, New York, United States
  • Vekaria, Pooja, Columbia University, New York, New York, United States
  • Furth, Susan L., The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
  • Gharavi, Ali G., Columbia University, New York, New York, United States

A subset of youth w/ chronic kidney disease (CKD) harbor genomic disorders that impair both kidney and neurobehavioral function. The resultant neurocognitive (NC) deficits may impact patient outcomes, e.g. suboptimal medication adherence or poor school/work performance.


We are conducting genomic and NC testing in youth aged 8-25y w/ CKD (CKD Stage 2-5, on dialysis, or transplanted). Analyses integrate assessment of microarray and exome sequence to identify pathogenic variants associated w/ CKD and neurodevelopmental disorders. Enrollment goal is 200 subjects.


Thus far, 30 subjects have completed NC testing (Table) and 24 underwent genomic analysis. On NC testing (Figure), we noted impaired NC outcomes, including lower IQ, weaknesses in global executive functioning, worse attention, and higher anxiety. In 3 of 24 cases who completed exome sequencing, we detected putatively pathogenic variants for monogenic forms of CKD: 2 w/ COL4A5 variants, associated w/ X-linked Alport syndrome; 1 w/ a ROBO2 variant, associated w/ Vesicoureteral Reflux 2. None had known pathogenic variants associated w/ neurodevelopmental disorders.


Our preliminary results support the need for genomic and NC assessment in youth w/ CKD to enable specific diagnosis and support early interventions. Further study incorporating genomic and NC performance data will help to elucidate genetic factors underlying CKD and NC deficits.

Participant Characteristics, N = 30
Age (years, Median [IQR])18.7 [15.3-20.8]
Male20 (67)
 White18 (60)
 Black9 (30)
Hispanic, Not Black12 (40)
Bilingual, Spanish10 (33)
Etiology of CKD
 Congenital Anomalies of the Kidney and Urinary Tract18 (60)
 Glomerulonephritis8 (27)
CKD Stage 2 & 321 (70)
History of Kidney Transplant13 (43)

Data as N (%)

Frequency tables of neurocognitive testing outcomes.


  • NIDDK Support