Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia
| Autor: | Bhuvana Sunil, Erin Greenup, Ambika P. Ashraf, Jurhee Freese |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Endocrinology Diabetes and Metabolism 030209 endocrinology & metabolism Case Report hypocalcemia Bone resorption TCIRG1 03 medical and health sciences 0302 clinical medicine osteopetrorickets Osteoclast medicine Bone mineral hypophosphatemia business.industry Increased Bone Density Osteopetrosis medicine.disease 030104 developmental biology medicine.anatomical_structure Failure to thrive osteopetrosis medicine.symptom business Hypophosphatemia AcademicSubjects/MED00250 |
| Zdroj: | Journal of the Endocrine Society |
| ISSN: | 2472-1972 |
| Popis: | Osteopetrosis is a rare group of bone disorders characterized by defective osteoclast bone resorption causing high bone mineral density. A high bone mineral density in combination with defective skeletal mineralization results in a phenotype of osteopetrorickets. We present a rare presentation of infantile osteopetrorickets in an 8-week-old female who presented with failure to thrive, hypophosphatemia, anemia, and thrombocytopenia. A skeletal survey showed increased bone density with rachitic changes. She was found to have a homozygous T-cell immune regulator 1 (TCIRG1) pathogenic mutation consistent with osteopetrosis. This highlights the importance of a clinical suspicion of osteopetrosis with this symptom constellation. |
| Databáze: | OpenAIRE |
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