Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline.

TitleFanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline.
Publication TypeJournal Article
Year of Publication2024
AuthorsBaqai K, Bassetti JA, Kovanlikaya A, Seshan SV, Akchurin O
JournalPediatr Nephrol
Volume39
Issue11
Pagination3201-3204
Date Published2024 Nov
ISSN1432-198X
KeywordsAdolescent, Biopsy, Child, Fanconi Syndrome, Female, Glomerular Filtration Rate, Humans, Kidney, Male, Nephrocalcinosis, Renal Insufficiency, Chronic
Abstract

Fanconi-Bickel syndrome (FBS) is a rare genetic disorder of carbohydrate metabolism due to pathogenic variants in SLC2A2, a gene encoding glucose transporter 2 (GLUT2), which leads to accumulation of glycogen in the kidney and liver. While consequential complex proximal tubular dysfunction is well acknowledged in the literature, long-term trajectories of kidney function in patients with FBS have not been well characterized, and kidney biopsy is performed infrequently. Here, we report on a patient with FBS followed from infancy through young adulthood who presented early on with hypercalciuria, phosphaturia, and hypophosphatemia, complicated by chronic kidney disease development during childhood. Kidney biopsy, in addition to a widespread glycogen accumulation in proximal tubular epithelial cells, demonstrated medullary nephrocalcinosis. Screening for nephrocalcinosis may be warranted in pediatric patients with FBS, along with close surveillance of their kidney function.

DOI10.1007/s00467-024-06388-4
Alternate JournalPediatr Nephrol
PubMed ID38847860
PubMed Central ID3462928
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