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Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome
المؤلفون المشاركون
Patel, Hiren P.
McBride, Kim L.
Beebe, Allan
Bowden, Sasigarn A.
المصدر
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-12-10
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Primary de Toni-Debré-Fanconi syndrome is a non-FGF23-mediated hypophosphatemic disorder due to a primary defect in renal proximal tubule cell function resulting in hyperphosphaturia, renal tubular acidosis, glycosuria, and generalized aminoaciduria.
The orthopaedic sequela and response to treatment of this rare disorder are limited in the literature.
Herein we report a long term followup of a 10-year-old female presenting at 1 year of age with rickets initially misdiagnosed as vitamin D deficiency rickets.
She was referred to the metabolic bone and genetics clinics at 5 years of age with severe genu valgum deformities of 24 degrees and worsening rickets.
She had polyuria, polydipsia, enuresis, and bone pain.
Diagnosis of hypophosphatemic rickets due to de Toni-Debré-Fanconi syndrome was subsequently made.
Respiratory chain enzyme analysis identified a complex I mitochondrial deficiency as the underlying cause.
She was treated with phosphate (50–70 mg/kg/day), calcitriol (30 ng/kg/day), and sodium citrate with resolution of bone pain and normal growth.
By 10 years of age, her genu valgus deformities were 4 degrees with healing of rickets.
Her excellent orthopaedic outcome despite late proper medical therapy is likely due to the intrinsic renal tubular defect that is more responsive to combined alkali, phosphate, and calcitriol therapy.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Bowden, Sasigarn A.& Patel, Hiren P.& Beebe, Allan& McBride, Kim L.. 2013. Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome. Case Reports in Pediatrics،Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-465296
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Bowden, Sasigarn A.…[et al.]. Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome. Case Reports in Pediatrics No. 2013 (2013), pp.1-5.
https://search.emarefa.net/detail/BIM-465296
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Bowden, Sasigarn A.& Patel, Hiren P.& Beebe, Allan& McBride, Kim L.. Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome. Case Reports in Pediatrics. 2013. Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-465296
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-465296
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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