An Infant with Pseudohyperkalemia, Hemolysis, and Seizures: Cation-Leaky GLUT1-Deficiency Syndrome due to aSLC2A1Mutation
| Autor: | Joanna F. Flatt, Mehul T. Dattani, Caroline Oren, Benjamin Jacobs, Gordon W. Stewart, Stephanie Grunewald, Evelien Gevers, Waleed M. Bawazir, Ai Leen Ang, Lesley J. Bruce |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
medicine.medical_specialty
Microcephaly Carbohydrate transport Hyperkalemia Anemia Endocrinology Diabetes and Metabolism Clinical Biochemistry Erythrocytes Abnormal Context (language use) Hemolysis Biochemistry Endocrinology De Vivo disease Cataracts Internal medicine medicine Humans Glucose Transporter Type 1 Epilepsy business.industry Biochemistry (medical) Infant Syndrome medicine.disease Magnetic Resonance Imaging Potassium Female medicine.symptom business |
| Zdroj: | The Journal of Clinical Endocrinology & Metabolism. 97:E987-E993 |
| ISSN: | 1945-7197 0021-972X |
| Popis: | GLUT1 (glucose transporter 1) deficiency syndrome is a well-known presentation in pediatric practice. Very rare mutations not only disable carbohydrate transport but also cause the red cell membrane to be constitutively permeant to monovalent cations, namely sodium and potassium.The aim of this study was to describe the pediatric presentation of a patient with GLUT1 deficiency with such a cation-leaky state.The infant presented with erratic hyperkalemia, neonatal hyperbilirubinemia, anemia, hepatic dysfunction, and microcephaly. Later, seizures occurred and developmental milestones were delayed. Magnetic resonance imaging and computerized tomography scans of the brain showed multiple abnormalities including periventricular calcification. Visual impairment was present due to the presence of both cataracts and retinal dysfunction.Measurements of red cell cation content showed extremely leaky red cells (causing the hemolysis) and temperature-dependent loss of potassium from red cells (explaining the hyperkalemia as pseudohyperkalemia). A trinucleotide deletion in SLC2A1, coding for the deletion of isoleucine 435 or 436 in GLUT1, was identified in the proband.This is the fourth pedigree to be described with this most unusual syndrome. The multisystem pathology probably reflects a combination of glucose transport deficiency at the blood-brain barrier (as in typical GLUT1 deficiency) and the deleterious osmotic effects of a cation-leaky membrane protein in the cells where GLUT1 is expressed, notably the red cell. We hope that this detailed description will facilitate rapid diagnosis of this disease entity. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|