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Abstract: TH-PO286

A Dialysis Dilemma in Achondroplasia

Session Information

Category: Dialysis

  • 703 Dialysis: Vascular Access


  • Agraharkar, Mahendra L., The University of Texas Medical Branch at Galveston, Galveston, Texas, United States
  • Jaju, Neelam, Bhaskar Medical College and Bhaskar General Hospital, Yenkapally, Telangana, India

Group or Team Name

  • Space City Associates of Nephrology

Achondroplasia is not an uncommon skeletal dysplasia caused by a variant Fibroblast Growth Factor Receptor 3 (FGFR3) gene leading to deformed limbs, spine and skull with an incidence of ~1:25,000 live births. Renal failure is not a feature but comorbidities may render them dialysis dependent. Unlike the genaral population, they encounter many problems such as erroneous GFR estimation due to poor musculature, limitations in modality selection and dialysis access placement, transportation, BP monitoring due to hypoplastic limbs, positioning in a recliner and selecting a dialysis unit that satisfies the above requirements.

Case Description

A 3' tall 51-yr-old achondroplasic female weighing 90 lbs presented with shortness of breath. She had multiple abdominal and lung surgeries causing ventral hernia and a tracheostomy. She was hypoxic, acidemic, hyperkalemic, and volume expanded with a creatinine of 2.99 mg/dl. Ventral hernia precluded peritoneal dialysis. We dialyzed her by placing a tunneled catheter.


Achondroplasics needing dialysis can encounter a multitude of problems. Low muscle mass hinders GFR estimation. Respiratory compromise and abdominal surgeries prohibit peritoneal dialysis. Hypoplastic limbs prevent AV shunts and right sized central venous catheters for such patients are unavailable. In the US, there are no pediatric freestanding dialysis units and the adult dialysis centers are not equipped for such patients. Patients with tracheostomy are dialyzed in an isolation unit by a nurse certified in tracheostomy care. There are no applicable formulae for GFR estimation nor for measuring adequacy in such patients.
Dialysis in this population has not been described. We describe the problems we faced and potential solutions that can be offered. Awareness of this condition is essential in this potentially growing population.

Note: BP cuff wraps entire limb.