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Abstract: FR-PO615

Nine New Genetic Associations with Medullary Sponge Kidney (MSK) and Successful Pain Therapy with Rimegepant

Session Information

Category: Genetic Diseases of the Kidneys

  • 1202 Genetic Diseases of the Kidneys: Non-Cystic


  • Braden, Gregory Lee, UMass Chan Med School-Baystate, Springfield, Massachusetts, United States
  • Landry, Daniel L., Umass Chan Med School-Baystate, Springfield, Massachusetts, United States
  • Hodgins, Spencer, UMass Chan Med School-Baystate, Springfield, Massachusetts, United States
  • Poindexter, Anthony E., UMass Chan Med School-Baystate, Springfield, Massachusetts, United States
  • Mulhern, Jeffrey, UMass Chan Med School-Baystate, Springfield, Massachusetts, United States

MSK has been associated with glial derived neurotrophic factor(GDNF) mutations in 15 % of patients(pts). Chronic kidney pain occcurs in 80% of MSK pts ( D Goldfarb, J Nephrol 81: 537, 2018).


We studied 15 consecutive radiologically confirmed MSK pts, 2 male and 13 female. 24 hour urinary metabolic changes were studied & gene mutations using Renasight, (Natera, Austin, TX).were performed. Since the kidney
sensory afferent nerve fibers in the tubules, pelvis, & ureters are mediated by calcitonin gene-related peptide(CGRP) we studied the effects of eresumab 70 & 140 mg/month subcut & rimegepant(R) 75 mg po qod (both block CGRP activity) to relieve kidney pain in the 6 pts with migraines & MSK. Eresumab caused GI upset in all 6. Chronic kidney pain was assessed before R & after 3 & 6 months of R utilizing the numeric pain rating scale.


Urine studies revealed hypercalciuria > 250 mg/d in 5/15, hypocitraturia < 200 mg/d in 6/15 pts , hyperuricosuria > 700 mg/d in 4/15 pts and none had hyperoxaluria. 13 pts had at least 1 urine abnormality & 14/15 had normal electrolytes without acidosis. Two pts had no mutations & none had GDNF mutations. 13 pts have new mutations associated with MSK: Two pts have Cystinuria: SLC7A9 & SLC3A1. Two pts have Alport's syndrome : COL4A4. One pt has Ehler Danlos Syndrome: COL5A1 One pt has Noonans's Syndrome: PTPN11 Two pts have Smith Lemli Opitz Syndrome: DHCR7. One pt has Pallister Hall Syndrome: CLI3. Two pts have nephronopthisis: NPHP2 & NPHP3. One pt has a defect in both FGFR-2 & Xanthinuria: MOCOS. One pt has proximal renal tubular acidosis: SLC4A4. Six pts had refractory migraines. The X +SEM pain score before R was 8.9+/- .4 & was reduced to 5.7+/-.3 at three & 6 months of R therapy, respectively, (p<0001) allowing 3 pts to lower their chronic opioids.


We conclude: all nine new gene mutations associated with MSK can cause structural renal changes especially in the interstitium and medulla & no pt had GDNF mutations. If MSK pts have migraines R can be a promising new successful chronic pain therapy confirming that CGRP is an important mediator of kidney pain in MSK.


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