A RARE CASE OF ADULT-ONSET NON-AUTOIMMUNE DISTAL RENAL TUBULAR ACIDOSIS WITH SUSPECTED HEREDITARY ETIOLOGY

 

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https://storage.unitedwebnetwork.com/files/1099/a4d00ac9f0204f75b38560841dab4e83.pdf
A RARE CASE OF ADULT-ONSET NON-AUTOIMMUNE DISTAL RENAL TUBULAR ACIDOSIS WITH SUSPECTED HEREDITARY ETIOLOGY

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Indy Frincy Vebrina
Sembiring
Indy Frincy Vebrina Sembiring indysembiring18@gmail.com Universitas Sumatera Utara Department of Internal Medicine Medan Indonesia *
Radar Radius Tarigan radiustarigan@yahoo.com Universitas Sumatera Utara Division of Nephrology, Department of Internal Medicine Medan Indonesia -
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Distal renal tubular acidosis (dRTA) is a rare inherited or acquired disorder characterized by non-anion gap hyperchloremic metabolic acidosis with inappropriately alkaline urine, often presenting with hypokalemic paralysis. It typically presents in childhood and is more commonly associated with autoimmune disease. Adult-onset cases without autoimmune features are exceptionally rare and can be misdiagnosed as other causes of hypokalemic paralysis. Delayed recognition can lead to recurrent paralysis and progressive renal damage. This case underscores the need to consider a hereditary etiology in atypical adult presentations, a point that is rarely emphasized in the literature.

A 32-year-old woman presented with acute lower-limb paralysis due to profound weakness. Laboratory tests revealed severe hypokalemia (K+ 1.2 mmol/L) with hyperchloremia (Cl- 120 mmol/L). Arterial blood gas confirmed a non–anion gap metabolic acidosis (pH 7.32, HCO3- 14 mmol/L, pCO2 28.3 mmHg). Urinalysis demonstrated inappropriately alkaline urine (pH 7.0) and a positive urinary anion gap (31.1 mEq/L). Renal and thyroid functions were normal, excluding chronic kidney disease and thyrotoxic periodic paralysis. Kidney ultrasound showed multiple nephrolithiasis. Autoimmune (ANA/anti-SSA, anti-SSB) and viral serologies were negative. The patient had short stature since childhood with a family history of similar features in her grandmother. These findings established the diagnosis of distal renal tubular acidosis and raised suspicion of a hereditary etiology.

This case demonstrates adult-onset distal RTA presenting with severe hypokalemic paralysis, non-anion gap hyperchloremic metabolic acidosis, and inappropriately alkaline urine. The transtubular potassium gradient was 7, confirming renal potassium wasting. Autoimmune serology was negative, and a hereditary etiology was suspected based on family history, although genetic testing was not available. After three months of oral potassium and bicarbonate supplementation, the patient achieved complete symptom resolution and remained clinically stable during follow-up, underscoring the importance of early recognition and guideline-based therapy to prevent recurrent paralysis and renal complications.

Adult-onset, non-autoimmune distal RTA with suspected hereditary background is exceptionally rare. Early recognition is critical for accurate diagnosis, guideline-based therapy, and prevention of recurrent paralysis and long-term renal complications.

Kewords