Glycosuria and hyperglycemia in the neonatal period as the first clinical sign of Fanconi-Bickel syndrome
Autor: | María Miñambres-Rodríguez, M Rosa del Real-Llorente, Cristina Tobar-Mideros, María Pilar Bahíllo-Curieses, Rebeca Garrote-Molpeceres, Sara Rellán-Rodríguez |
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Rok vydání: | 2017 |
Předmět: |
Glycosuria
medicine.medical_specialty Fasting Hypoglycemia business.industry Endocrinology Diabetes and Metabolism 030209 endocrinology & metabolism Rickets Hypoglycemia medicine.disease Gastroenterology 03 medical and health sciences 0302 clinical medicine Endocrinology Postprandial Renal tubular dysfunction Internal medicine Pediatrics Perinatology and Child Health Internal Medicine medicine Vitamin D and neurology 030212 general & internal medicine medicine.symptom business Weight gain |
Zdroj: | Pediatric Diabetes. 19:180-183 |
ISSN: | 1399-543X |
DOI: | 10.1111/pedi.12531 |
Popis: | Fanconi-Bickel syndrome is a rare inherited disease characterized by the combination of hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. The first symptoms of the disorder are recognized in late infancy as clinical characteristics appear. Therapeutic approach is mainly conservative with supplements of calcium, phosphate and vitamin D and small frequent feedings to avoid hypoglycemia. We report 1 clinical case of very early diagnosis, a 19 days old baby girl, in which the first clinical sign of the disease was the detection of glycosuria and vomits. Serum alkaline phosphatase levels were very high without rickets. The patient presented postprandial hyperglycemia and fasting hypoglycemia. A complete 24-hour glucose profile was obtained using a continuous glucose monitoring system in real time, which was fundamental not only for the diagnosis but also for the prevention of hypoglycemia. She received frequent small meals, galactose-free milk diet, and oral intakes of calcium, phosphorum, bicarbonate and vitamin D supplements with good evolution and normal height and weight gain. |
Databáze: | OpenAIRE |
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