Abstract
Generalized proximal, type 2, renal tubular acidosis, also known as Fanconi syndrome, is a generalized dysfunction of the proximal renal tubule characterized by impaired reabsorption and increased urinary loss of phosphate and other solutes, such as uric acid, glucose, amino acids, and bicarbonate. Chronic hypophosphatemia is the second most common cause of osteomalacia after vitamin D deficiency in adult patients and can have a heterogeneous presentation, ranging from mild symptoms such as muscle weakness and skeletal pain to more severe presentation, such as disabling myopathy, severe bone and joint pain, difficulty walking, and even bone fractures.Methods: This report describes a case of severe hypophosphatemic osteomalacia with multiple fragility fractures induced by adefovir, which was worsened and confounded by a previous treatment with zoledronic acid and required prolonged intravenous potassium phosphate administration.Results: We highlight the limited diagnostic value of dual X-ray absorptiometry and bone scintigraphy in this challenging diagnosis. Bone metabolism should always be assessed in patients treated with adefovir for early detection of osteomalacia due to Fanconi syndrome.Conclusion: Although rare, this condition may be life-threatening and mimic other bone metabolic disorders that are treated with drugs that may further impair phosphate balance.
| Original language | English |
|---|---|
| Pages (from-to) | e246-e249 |
| Journal | Endocrine Practice |
| Volume | 20 |
| Issue number | 12 |
| DOIs | |
| Publication status | Published - Dec 1 2014 |
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ASJC Scopus subject areas
- Endocrinology
- Endocrinology, Diabetes and Metabolism
Cite this
Severe hypophosphatemic osteomalacia secondary to fanconi syndrome due to adefovir : A case report. / Palermo, Andrea; Strollo, Rocky; Papalia, Rocco; D'Onofrio, Luca; Maddaloni, Ernesto; Briganti, Silvia Irina; Napoli, Nicola; Vespasiani, Umberto; Costantino, Sebastiano; Pozzilli, Paolo; Denaro, Vincenzo; Manfrini, Silvia.
In: Endocrine Practice, Vol. 20, No. 12, 01.12.2014, p. e246-e249.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Severe hypophosphatemic osteomalacia secondary to fanconi syndrome due to adefovir
T2 - A case report
AU - Palermo, Andrea
AU - Strollo, Rocky
AU - Papalia, Rocco
AU - D'Onofrio, Luca
AU - Maddaloni, Ernesto
AU - Briganti, Silvia Irina
AU - Napoli, Nicola
AU - Vespasiani, Umberto
AU - Costantino, Sebastiano
AU - Pozzilli, Paolo
AU - Denaro, Vincenzo
AU - Manfrini, Silvia
PY - 2014/12/1
Y1 - 2014/12/1
N2 - Generalized proximal, type 2, renal tubular acidosis, also known as Fanconi syndrome, is a generalized dysfunction of the proximal renal tubule characterized by impaired reabsorption and increased urinary loss of phosphate and other solutes, such as uric acid, glucose, amino acids, and bicarbonate. Chronic hypophosphatemia is the second most common cause of osteomalacia after vitamin D deficiency in adult patients and can have a heterogeneous presentation, ranging from mild symptoms such as muscle weakness and skeletal pain to more severe presentation, such as disabling myopathy, severe bone and joint pain, difficulty walking, and even bone fractures.Methods: This report describes a case of severe hypophosphatemic osteomalacia with multiple fragility fractures induced by adefovir, which was worsened and confounded by a previous treatment with zoledronic acid and required prolonged intravenous potassium phosphate administration.Results: We highlight the limited diagnostic value of dual X-ray absorptiometry and bone scintigraphy in this challenging diagnosis. Bone metabolism should always be assessed in patients treated with adefovir for early detection of osteomalacia due to Fanconi syndrome.Conclusion: Although rare, this condition may be life-threatening and mimic other bone metabolic disorders that are treated with drugs that may further impair phosphate balance.
AB - Generalized proximal, type 2, renal tubular acidosis, also known as Fanconi syndrome, is a generalized dysfunction of the proximal renal tubule characterized by impaired reabsorption and increased urinary loss of phosphate and other solutes, such as uric acid, glucose, amino acids, and bicarbonate. Chronic hypophosphatemia is the second most common cause of osteomalacia after vitamin D deficiency in adult patients and can have a heterogeneous presentation, ranging from mild symptoms such as muscle weakness and skeletal pain to more severe presentation, such as disabling myopathy, severe bone and joint pain, difficulty walking, and even bone fractures.Methods: This report describes a case of severe hypophosphatemic osteomalacia with multiple fragility fractures induced by adefovir, which was worsened and confounded by a previous treatment with zoledronic acid and required prolonged intravenous potassium phosphate administration.Results: We highlight the limited diagnostic value of dual X-ray absorptiometry and bone scintigraphy in this challenging diagnosis. Bone metabolism should always be assessed in patients treated with adefovir for early detection of osteomalacia due to Fanconi syndrome.Conclusion: Although rare, this condition may be life-threatening and mimic other bone metabolic disorders that are treated with drugs that may further impair phosphate balance.
UR - http://www.scopus.com/inward/record.url?scp=84919976763&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84919976763&partnerID=8YFLogxK
U2 - 10.4158/EP14251.CR
DO - 10.4158/EP14251.CR
M3 - Article
AN - SCOPUS:84919976763
VL - 20
SP - e246-e249
JO - Endocrine Practice
JF - Endocrine Practice
SN - 1530-891X
IS - 12
ER -