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Abstract: SA-PO317

Ornithine Transcarbamylase Deficiency in the Time of Pregnancy: The Role of Hemodialysis in Promoting Protein Nutrition

Session Information

Category: Dialysis

  • 701 Dialysis: Hemodialysis and Frequent Dialysis

Authors

  • Tran, Michelle, UVA Health, Charlottesville, Virginia, United States
  • Kumar, Anubhav, UVA Health, Charlottesville, Virginia, United States
Introduction

Ornithine transcarbamylase deficiency (OTC-d) is a rare X-linked urea cycle disorder leading to hyperammonemia. It is exacerbated by periods of catabolic stress, including pregnancy, with treatments including protein restriction. We describe a case of a patient with OTC-d who developed hyperammonemia in her third trimester of pregnancy, complicated by protein malnutrition, for which dialysis was initiated to improve nutritional status.

Case Description

A 30-year-old female with OTC-d diagnosed at 27 weeks gestation presented with acute encephalopathy and ammonia level of 205 umol/L. Mentation and ammonia levels initially improved with sodium phenylacetate-sodium benzoate, arginine supplementation, and nutritional protein restriction until stable for discharge. She re-presented five days later with serum ammonia of 338 umol/L, nausea, vomiting, and worsening encephalopathy requiring intubation. While mental status improved with the therapies above, her ammonia level remained persistently elevated above the goal of <75 umol/L despite holding feeds, suggestive of protein malnutrition and muscle catabolism. Nephrology was consulted. Intermittent hemodialysis at typical flow rates was initiated for ten sessions, eight sequential, allowing the patient’s dietary protein intake to be liberalized as ammonia levels and symptoms improved. No ultrafiltration was prescribed. She underwent planned Caesarian section complicated by emergency hysterectomy about one month after her final hemodialysis session. She did not require dialysis post-operatively. During her hospitalization, a multidisciplinary team consisting of Nephrology, Medical Genetics, Nutrition, High Risk Obstetrics, and Critical Care were involved in her management.

Discussion

Patients with OTC-d must be maintained in delicate metabolic homeostasis. We describe the complex management of a patient with OTC-d in the inherently catabolic state of late pregnancy. In this patient refractory to initial drug therapy and demonstrating muscle catabolism, hemodialysis improved her ammonia levels thus allowing for improved protein intake. This case further highlighted the degree of multidisciplinary collaboration required to achieve therapeutic goals when caring for these medically complex patients.