Academic Journal
Hereditary Hypophosphatemic rickets with Hypercalciuria: A case report and review of literature
| العنوان: | Hereditary Hypophosphatemic rickets with Hypercalciuria: A case report and review of literature |
|---|---|
| المؤلفون: | Subal Ku Pradhan, Pawan Mutalik, Sandeep Ku Tripathy, Arakhita Swain, Sardar Vallabh, Bhai Patel |
| المساهمون: | The Pennsylvania State University CiteSeerX Archives |
| المصدر: | http://iosrjournals.org/iosr-jdms/papers/Vol13-issue2/Version-3/F013232327.pdf. |
| المجموعة: | CiteSeerX |
| الوصف: | Hereditary hypophosphatemic rickets with Hypercalciuria (HHRH) is one of the four entities of hereditary hypophosphatemic rickets, characterized by vitamin D refractory rickets, I. Case Report We report a case of a two year old first order female child born out of non-consanguineous marriage with delayed motor milestones. The child presented to us with the complaints of not able to walk without support, short height and not gaining weight adequately. The antenatal and natal history was uneventful with a birth weight of 3 kilograms (kg) and length 49 centimeters (cm). There was no history of polyuria, polydipsia or family history of similar complaints. Past history revealed that child had an episode of lower respiratory infection about 1 month back which was treated with oral antibiotics and anti-pyretics for 7 days. On examination, the child had features of active rickets (Radiograph as in Based on the above clinical features, resistance to vitamin D and Calcium supplementation and laboratory findings of hypophosphatemia, Hyperphosphaturia, normal serum calcium, PTH, 25-hydroxyvitamin D and high normal 1, 25-dihydroxyvitamin D, a diagnosis of Hypophosphatemic Rickets was done. Clinically, all the four entities of hypophosphatemic rickets (XLH, ADHR, ARHR and HHRH) cannot be differentiated without a genetic test except evidence of Hypercalciuria in HHRH. Our case showed a Urinary spot Calcium Creatinine ratio of 1.56 and Ultrasonography of kidney showed both kidneys of normal size (Right Kidney size-77 mm x 33 mm, Left Kidney size-78 mm x 36 mm) with bilateral medullary nephrocalcinosis. Based on the above investigations, a diagnosis of HHRH was done. Vitamin D and oral calcium supplementation was stopped and the patient was started immediately on oral phosphate supplementation at the dose of 500 mg four times a day. In view of Hypercalciuria with nephrocalcinosis, the child was treated with short course of Chlorthiazide tablet (25mg) ½ tablet once daily with dietary salt restriction. The child was ... |
| نوع الوثيقة: | text |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1080.2996; http://iosrjournals.org/iosr-jdms/papers/Vol13-issue2/Version-3/F013232327.pdf |
| الاتاحة: | http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1080.2996 http://iosrjournals.org/iosr-jdms/papers/Vol13-issue2/Version-3/F013232327.pdf |
| Rights: | Metadata may be used without restrictions as long as the oai identifier remains attached to it. |
| رقم الانضمام: | edsbas.E2FC21D0 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |