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Persistent acidosis and chronic kidney disease in a patient with type 1 glycogen storage disease.
- Source :
-
Clinical nephrology [Clin Nephrol] 2023 Apr; Vol. 99 (4), pp. 197-202. - Publication Year :
- 2023
-
Abstract
- Type 1 glycogen storage disease (GSDI) is a rare autosomal recessive disorder caused by glucose-6-phosphatase (G6Pase) deficiency. We discuss a case of a 29-year-old gentleman who had GSDI with metabolic complications of hypoglycemia, hypertriglyceridemia, hyperuricemia, and short stature. He also suffered from advanced chronic kidney disease, nephrotic range proteinuria, and hepatic adenomas. He presented with acute pneumonia and refractory metabolic acidosis despite treatment with isotonic bicarbonate infusion, reversal of hypoglycemia, and lactic acidosis. He eventually required kidney replacement therapy. The case report highlights the multiple contributing mechanisms and challenges to managing refractory metabolic acidosis in a patient with GSDI. Important considerations for dialysis initiation, decision for long-term dialysis modality and kidney transplantation for patients with GSDI are also discussed in this case report.
- Subjects :
- Male
Humans
Adult
Renal Dialysis adverse effects
Glycogen Storage Disease Type I complications
Glycogen Storage Disease Type I diagnosis
Glycogen Storage Disease Type I therapy
Renal Insufficiency, Chronic complications
Renal Insufficiency, Chronic therapy
Hypoglycemia complications
Hypoglycemia therapy
Acidosis
Subjects
Details
- Language :
- English
- ISSN :
- 0301-0430
- Volume :
- 99
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Clinical nephrology
- Publication Type :
- Academic Journal
- Accession number :
- 36871226
- Full Text :
- https://doi.org/10.5414/CN111005