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Abstract: TH-PO393

Unraveling the Enigma: Deciphering Recurrent Metabolic Acidosis and the Elusive Kabadi Syndrome

Session Information

Category: Fluid, Electrolytes, and Acid-Base Disorders

  • 1102 Fluid, Electrolyte, and Acid-Base Disorders: Clinical

Authors

  • Samant, Samira Mahesh, The Permanente Medical Group Inc, Santa Clara, California, United States
  • Cortesi, Camilo, The Permanente Medical Group Inc, Santa Clara, California, United States
Introduction

This case report explores the diagnostic challenges posed by rare metabolic acidosis conditions. It focuses on Kabadi syndrome (KBS), accompanied by carnitine deficiency. Understanding and managing KBS remains difficult due to its rarity and limited knowledge of the condition. In highlighting the complexity of such cases, we emphasize the need for thorough investigation into rare etiologies.

Case Description

A 65-year-old female with idiopathic chronic pancreatitis with recurrent life-threatening severe anion gap metabolic acidosis (AGMA) over three years, requiring frequent admissions to the intensive care unit. She presented with respiratory distress, altered mental status, and abdominal pain. Laboratory findings consistently showed severe acidemia, low bicarbonate, and elevated anion gap. Glucose levels were normal, with positive ketones. Workup revealed consistently elevated lipase levels with normal liver function tests. Genetic testing was inconclusive, except for low carnitine levels. Imaging indicated chronic pancreatitis. Management involved insulin therapy, hydration, correction of acidosis, pancreatic enzymes, and carnitine supplementation, leading to resolution; ultimately, medication non-compliance led to readmissions.

Discussion

KBS, or pancreatic ketoacidosis, is a rare condition characterized by euglycemic ketoacidosis. It is triggered by elevated pancreatic lipase levels, resulting in fat necrosis and ketone production. The pathophysiology involves the release of free fatty acids, converting them into ketone bodies and causing metabolic acidosis. Carnitine deficiency further impairs ketone clearance and contributes to acidemia. In this patient, the combination of KBS and carnitine deficiency adds complexity. Carnitine supplementation may protect against recurrence; especially as cognitive impairments associated with carnitine deficiency may explain medication non-compliance. This case underscores the importance of comprehensive investigations, genetic testing, and innovative thinking in unraveling rare etiologies. The multidimensional treatment approach includes fluid management, acidosis correction, pain management, pancreatic enzyme replacement therapy, nutritional support, and carnitine supplementation. This report highlights the complexity of rare AGMA etiologies, emphasizing perseverance, innovative investigations, and personalized approaches.