Hyperammonemic encephalopathy requiring hemodialysis in a child with distal renal tubular acidosis

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Huseynli B., AKKUZU E., BÜYÜKKARAGÖZ B., BAKKALOĞLU EZGÜ S. A.

Journal of Nephrology, cilt.38, sa.3, ss.1101-1106, 2025 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 3
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1007/s40620-025-02218-4
  • Dergi Adı: Journal of Nephrology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.1101-1106
  • Anahtar Kelimeler: Distal renal tubular acidosis, Hemodialysis, Hyperammonemia, Hyperammonemic encephalopathy
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Gazi Üniversitesi Adresli: Evet

Özet

A 3.5-year-old girl with genetically proven distal renal tubular acidosis presented with lethargy, after numerous episodes of vomiting and poor feeding. Laboratory investigations revealed severe metabolic acidosis, hypokalemia and a serum ammonia level of 515 mmol/L (normal range: 19–50 mmol/L). Despite treatment with sodium bicarbonate, potassium supplementation, sodium benzoate and carglumic acid, her condition required hemodialysis, which resulted in rapid improvement in clinical and metabolic parameters. Hyperammonemia in distal renal tubular acidosis results from impaired ammonium excretion and increased ammoniagenesis due to hypokalemia and chronic metabolic acidosis, particularly during metabolic decompensation. This case had the highest ever reported serum ammonia level in distal renal tubular acidosis with encephalopathic findings, necessitating hemodialysis treatment. Routine monitoring of serum ammonia levels in distal renal tubular acidosis patients during metabolic stress is essential.