Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome
Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophos...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2011-01-01
|
| Series: | Case Reports in Pathology |
| Online Access: | http://dx.doi.org/10.1155/2011/314696 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849395476399390720 |
|---|---|
| author | Mahua Roy K. Bose D. K. Paul Puja Anand |
| author_facet | Mahua Roy K. Bose D. K. Paul Puja Anand |
| author_sort | Mahua Roy |
| collection | DOAJ |
| description | Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS. |
| format | Article |
| id | doaj-art-aa5adc6bf42a4567b181a528d7dd70d5 |
| institution | Kabale University |
| issn | 2090-6781 2090-679X |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pathology |
| spelling | doaj-art-aa5adc6bf42a4567b181a528d7dd70d52025-08-20T03:39:36ZengWileyCase Reports in Pathology2090-67812090-679X2011-01-01201110.1155/2011/314696314696Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel SyndromeMahua Roy0K. Bose1D. K. Paul2Puja Anand3Department of Pediatric Medicine, Dr. B. C. Roy Postgraduate, Institute of Pediatric Sciences, West Bengal, Kolkata 700054, IndiaDepartment of Pediatric Medicine, Dr. B. C. Roy Postgraduate, Institute of Pediatric Sciences, West Bengal, Kolkata 700054, IndiaDepartment of Pediatric Medicine, Dr. B. C. Roy Postgraduate, Institute of Pediatric Sciences, West Bengal, Kolkata 700054, IndiaDepartment of Pediatric Medicine, Dr. B. C. Roy Postgraduate, Institute of Pediatric Sciences, West Bengal, Kolkata 700054, IndiaFanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.http://dx.doi.org/10.1155/2011/314696 |
| spellingShingle | Mahua Roy K. Bose D. K. Paul Puja Anand Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome Case Reports in Pathology |
| title | Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome |
| title_full | Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome |
| title_fullStr | Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome |
| title_full_unstemmed | Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome |
| title_short | Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome |
| title_sort | hypophosphatemic rickets presenting features of fanconi bickel syndrome |
| url | http://dx.doi.org/10.1155/2011/314696 |
| work_keys_str_mv | AT mahuaroy hypophosphatemicricketspresentingfeaturesoffanconibickelsyndrome AT kbose hypophosphatemicricketspresentingfeaturesoffanconibickelsyndrome AT dkpaul hypophosphatemicricketspresentingfeaturesoffanconibickelsyndrome AT pujaanand hypophosphatemicricketspresentingfeaturesoffanconibickelsyndrome |