An Unusual Presentation of Hypophosphatemic Rickets
ABSTRACT: Objective: Availability and absorption of phosphate is crucial for bone mineralization. Hypophosphatemia can lead to defective bone mineralization and consequently, rickets. Maintenance of phosphate levels relies on dietary intake, gastrointestinal absorption, renal re-absorption, and rena...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2018-01-01
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| Series: | AACE Clinical Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2376060520304508 |
| _version_ | 1818414150076858368 |
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| author | Kathleen H. Ang, MD Anisha D. Patel, DO Adam K. Berkwitt, MD |
| author_facet | Kathleen H. Ang, MD Anisha D. Patel, DO Adam K. Berkwitt, MD |
| author_sort | Kathleen H. Ang, MD |
| collection | DOAJ |
| description | ABSTRACT: Objective: Availability and absorption of phosphate is crucial for bone mineralization. Hypophosphatemia can lead to defective bone mineralization and consequently, rickets. Maintenance of phosphate levels relies on dietary intake, gastrointestinal absorption, renal re-absorption, and renal excretion. We report a case of an 8-month-old girl with hypophosphatemic rickets that exhibited appropriate dietary intake of phosphate and appropriate renal re-absorption of phosphate.Methods: Case report and literature review.Results: The most widely encountered mechanism for hypophosphatemic rickets is renal phosphate wasting. In this patient, decreased gastrointestinal absorption of phosphate was the most likely etiology of hypophosphatemia. With a simple dietary maneuver, she achieved resolution of hypophosphatemia and improvement in bone mineralization.Conclusion: This case highlights the importance of considering extra-renal etiologies of hypophosphatemic rickets and careful dietary history, even in infants.Abbreviation: PTH parathyroid hormone |
| first_indexed | 2024-12-14T11:14:31Z |
| format | Article |
| id | doaj.art-a3bea375a1964d089dc1a9561ee9deff |
| institution | Directory Open Access Journal |
| issn | 2376-0605 |
| language | English |
| last_indexed | 2024-12-14T11:14:31Z |
| publishDate | 2018-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | AACE Clinical Case Reports |
| spelling | doaj.art-a3bea375a1964d089dc1a9561ee9deff2022-12-21T23:04:06ZengElsevierAACE Clinical Case Reports2376-06052018-01-01413538An Unusual Presentation of Hypophosphatemic RicketsKathleen H. Ang, MD0Anisha D. Patel, DO1Adam K. Berkwitt, MD2From Yale University School of Medicine, New Haven, Connecticut.; Address correspondence to Dr. Kathleen Ang, Department of Pediatrics, Yale University, PO Box 208064, New Haven, CT 06520.From Yale University School of Medicine, New Haven, Connecticut.From Yale University School of Medicine, New Haven, Connecticut.ABSTRACT: Objective: Availability and absorption of phosphate is crucial for bone mineralization. Hypophosphatemia can lead to defective bone mineralization and consequently, rickets. Maintenance of phosphate levels relies on dietary intake, gastrointestinal absorption, renal re-absorption, and renal excretion. We report a case of an 8-month-old girl with hypophosphatemic rickets that exhibited appropriate dietary intake of phosphate and appropriate renal re-absorption of phosphate.Methods: Case report and literature review.Results: The most widely encountered mechanism for hypophosphatemic rickets is renal phosphate wasting. In this patient, decreased gastrointestinal absorption of phosphate was the most likely etiology of hypophosphatemia. With a simple dietary maneuver, she achieved resolution of hypophosphatemia and improvement in bone mineralization.Conclusion: This case highlights the importance of considering extra-renal etiologies of hypophosphatemic rickets and careful dietary history, even in infants.Abbreviation: PTH parathyroid hormonehttp://www.sciencedirect.com/science/article/pii/S2376060520304508 |
| spellingShingle | Kathleen H. Ang, MD Anisha D. Patel, DO Adam K. Berkwitt, MD An Unusual Presentation of Hypophosphatemic Rickets AACE Clinical Case Reports |
| title | An Unusual Presentation of Hypophosphatemic Rickets |
| title_full | An Unusual Presentation of Hypophosphatemic Rickets |
| title_fullStr | An Unusual Presentation of Hypophosphatemic Rickets |
| title_full_unstemmed | An Unusual Presentation of Hypophosphatemic Rickets |
| title_short | An Unusual Presentation of Hypophosphatemic Rickets |
| title_sort | unusual presentation of hypophosphatemic rickets |
| url | http://www.sciencedirect.com/science/article/pii/S2376060520304508 |
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