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Kidney Week

Abstract: FR-PO1168

Congenital Nephrogenic Diabetes Insipidus: A Review of 50 Pediatric Patients from MWPNC Centers

Session Information

  • Pediatric Nephrology - I
    October 26, 2018 | Location: Exhibit Hall, San Diego Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

  • 1600 Pediatric Nephrology

Authors

  • D'Alessandri-Silva, Cynthia J., Connecticut Children's Medical Center, Hartford, Connecticut, United States
  • Carpenter, Melinda, Connecticut Children''s Medical Center, Hartford, Connecticut, United States
  • Ayoob, Rose M., Nationwide Children's Hospital, Columbus, Ohio, United States
  • Chishti, Aftab S., University of Kentucky, Lexington, Kentucky, United States
  • Barcia, John P., UVA Pediatric Nephrology, Charlottesville, Virginia, United States
  • Constantinescu, Alexandru R., Joe DiMaggio Children's Hospital, Hollywood, Florida, United States
  • Goodwin, Julie, Yale University School of Medicine, New Haven, Connecticut, United States
  • Hashmat, Shireen, University of Chicago, Chicago, Illinois, United States
  • Greenbaum, Larry A., Emory University, Atlanta, Georgia, United States
  • Mason, Sherene, Connecticut Children's Medical Center, Hartford, Connecticut, United States
  • Misurac, Jason, University of Iowa, Iowa City, Iowa, United States
  • Muff-Luett, Melissa A., University of Nebraska Medical Center/ Children's Hospital of Omaha, Omaha, Nebraska, United States
  • Shah, Shweta S., Texas Children's Hospital, Houston, Texas, United States
  • Weng, Patricia L., UCLA, Los Angeles, California, United States
  • Mahan, John D., Nationwide Children's Hospital, Columbus, Ohio, United States
Background

Congenital Nephrogenic Diabetes Insipidus (NDI) is a rare genetic disorder that causes massive polyuria. To better understand NDI in children, we present, to our knowledge, the largest retrospective case series to date. Our objective for this study was to describe clinical presentation, genetic etiology, treatment and outcomes in patients < 21 years with NDI.

Methods

Midwest Pediatric Nephrology Consortium centers (MWPNC) conducted a retrospective chart review.

Results

We report 50 subjects from 12 centers. Median age at diagnosis was 125 days (interquartile range (IQR), 37, 296) with 86% male. 66% were white, 14% black, 8% Asian and 12% other race. 18% had a water deprivation test and 50% had a DDAVP loading test (median age at DDAVP 155 days (IQR, 101, 392)). At diagnosis, 74% had an elevated serum osmolality (> 300 MOsm/L). 54% had genetic testing with mutations in AVPR2 (65%), AQP2 (14%), and unavailable (21%). 28% had a diagnosis of CKD; 55% Stage 1, 36% Stage 2 and 9% Stage 5. Median age at time of CKD diagnosis was 4.1 years (IQR, 3.1, 9.4). 18% had abnormal renal ultrasound findings; the majority were hydronephrosis and pelvicaliectasis. Table 1 lists pharmacologic interventions. Other medications included chlorothiazide (2%), chlorthiadone (4%), other NSAIDS (8%) and spironolactone (6%). Figure 1 lists nutritional management. At last follow-up, 52% reported to have enuresis.

Conclusion

Our results suggest a multi-centered approach to this rare disease yields robust information that can inform future novel treatment studies and creation of a clinical consensus for management of children with NDI.

Pharmacologic Interventions
InterventionUsed
% (n=50)
Start age in days
Median (IQR)
Length of treatment in days
Median (IQR)
Hydrochlorothiazide96136 (57, 334)446 (233, 1823)
Amiloride64169 (64, 949)175 (13, 1721)
Indomethacin44580 (89, 863)162 (9, 1685)