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A case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis.

Yamaguchi S, Maruyama T, Wakino S, Tokuyama H, Hashiguchi A, Tada S, Homma K, Monkawa T, Thomas J, Miyashita K, Kurihara I, Yoshida T, Konishi K, Hayashi K, Hayashi M, Itoh H - BMC Nephrol (2015)

Bottom Line: A kidney biopsy demonstrated the features of tubulointerstitial nephritis (TIN).The patient was also suspected as having primary biliary cirrhosis (PBC) because of high levels of alkaline phosphatase, IgM and the presence of anti-mitochondrial M2 antibody, though biochemical liver function was normal.Sequential liver biopsy was compatible with PBC and the diagnosis of PBC was definite.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. syamaguc@dom.wustl.edu.

ABSTRACT

Background: Primary biliary cirrhosis (PBC) is an immune-mediated chronic cholestatic liver disease, characterized by increased concentrations of serum IgM and the presence of circulating anti-mitochondrial antibodies. Although bone diseases such as osteoporosis or osteodystrophy are commonly associated with PBC, osteomalacia which is caused by abnormal vitamin D metabolism, mineralization defects, and phosphate deficiency has not been recognized as a complication of PBC.

Case presentation: We report the case of a 49-year-old Japanese woman who complained of multiple fractures. Hypophosphatemic osteomalacia was diagnosed from a low serum phosphorus level, 1,25-dihydroxyvitamin D3 level, high levels of bone specific alkaline phosphatase and the findings of bone scintigraphy, although a bone biopsy was not performed. Twenty four hour urine demonstrated a low renal fractional tubular reabsorption of phosphate, increased fractional excretion of uric acid and generalized aminoaciduria. An intravenous bicarbonate loading test suggested the presence of proximal renal tubular acidosis (RTA). These biochemical data indicated Fanconi syndrome with proximal RTA. A kidney biopsy demonstrated the features of tubulointerstitial nephritis (TIN). The patient was also suspected as having primary biliary cirrhosis (PBC) because of high levels of alkaline phosphatase, IgM and the presence of anti-mitochondrial M2 antibody, though biochemical liver function was normal. Sequential liver biopsy was compatible with PBC and the diagnosis of PBC was definite. After administration of 1,25 dihydroxyvitamin D3, neutral potassium phosphate, sodium bicarbonate for osteomalacia and subsequent predonizolone for TIN, symptoms of fractures were relieved and renal function including Fanconi syndrome was ameliorated.

Conclusion: In this case, asymptomatic PBC was shown to induce TIN with Fanconi syndrome with dysregulation of electrolytes and vitamin D metabolism, which in turn led to osteomalacia with multiple fractures. Osteomalacia has not been recognized as a result of the renal involvement of PBC. PBC and its rare complication of TIN with Fanconi syndrome should be considered in adult patients with unexplained osteomalacia even in the absence of liver dysfunction.

No MeSH data available.


Related in: MedlinePlus

MRI findings of incomplete bilateral transcervical fractures (Arrows) before (a) and after (b) the treatment
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Fig1: MRI findings of incomplete bilateral transcervical fractures (Arrows) before (a) and after (b) the treatment

Mentions: In November 2007, a 49-year-old Japanese woman was referred to our hospital from an orthopaedist complaining of a one year history of sustained difficulty walking and severe bilateral hip pain. Her height was 155.5 cm and body weight was 61.0 kg. Laboratory data showed a creatinine of 1.4 mg/dl, potassium 2.8 mmol/l, calcium 9.5 mg/dl, phosphorus 2.5 mg/dl, uric acid 1.5 mg/dl, normoglycaemic glycosuria and metabolic acidemia (pH 7.30, HCO3− 17.4 mmol/l) (Table 1). Bilateral transcervical fractures were confirmed by MRI (Fig. 1a) and bone scintigraphy showed multiple hot spots in her joints and ribs, compatible with osteomalacia (Fig. 2). Hypophosphatemic osteomalacia was diagnosed clinically from a low serum level of phosphorus, 1,25-dihydroxyvitamin D3 (11.0 pg/dl), high levels of bone specific alkaline phosphatase (67.5 IU/l), and the findings of bone scintigram, although a bone biopsy was not performed. Tumor-induced osteomalacia (TIO) was ruled out by total body survey with whole body computed tomography or endoscopic surveillances and a normal blood FGF23 (22.1 pg/ml, 10–50 pg/ml) level.Table 1


A case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis.

Yamaguchi S, Maruyama T, Wakino S, Tokuyama H, Hashiguchi A, Tada S, Homma K, Monkawa T, Thomas J, Miyashita K, Kurihara I, Yoshida T, Konishi K, Hayashi K, Hayashi M, Itoh H - BMC Nephrol (2015)

MRI findings of incomplete bilateral transcervical fractures (Arrows) before (a) and after (b) the treatment
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4641361&req=5

Fig1: MRI findings of incomplete bilateral transcervical fractures (Arrows) before (a) and after (b) the treatment
Mentions: In November 2007, a 49-year-old Japanese woman was referred to our hospital from an orthopaedist complaining of a one year history of sustained difficulty walking and severe bilateral hip pain. Her height was 155.5 cm and body weight was 61.0 kg. Laboratory data showed a creatinine of 1.4 mg/dl, potassium 2.8 mmol/l, calcium 9.5 mg/dl, phosphorus 2.5 mg/dl, uric acid 1.5 mg/dl, normoglycaemic glycosuria and metabolic acidemia (pH 7.30, HCO3− 17.4 mmol/l) (Table 1). Bilateral transcervical fractures were confirmed by MRI (Fig. 1a) and bone scintigraphy showed multiple hot spots in her joints and ribs, compatible with osteomalacia (Fig. 2). Hypophosphatemic osteomalacia was diagnosed clinically from a low serum level of phosphorus, 1,25-dihydroxyvitamin D3 (11.0 pg/dl), high levels of bone specific alkaline phosphatase (67.5 IU/l), and the findings of bone scintigram, although a bone biopsy was not performed. Tumor-induced osteomalacia (TIO) was ruled out by total body survey with whole body computed tomography or endoscopic surveillances and a normal blood FGF23 (22.1 pg/ml, 10–50 pg/ml) level.Table 1

Bottom Line: A kidney biopsy demonstrated the features of tubulointerstitial nephritis (TIN).The patient was also suspected as having primary biliary cirrhosis (PBC) because of high levels of alkaline phosphatase, IgM and the presence of anti-mitochondrial M2 antibody, though biochemical liver function was normal.Sequential liver biopsy was compatible with PBC and the diagnosis of PBC was definite.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. syamaguc@dom.wustl.edu.

ABSTRACT

Background: Primary biliary cirrhosis (PBC) is an immune-mediated chronic cholestatic liver disease, characterized by increased concentrations of serum IgM and the presence of circulating anti-mitochondrial antibodies. Although bone diseases such as osteoporosis or osteodystrophy are commonly associated with PBC, osteomalacia which is caused by abnormal vitamin D metabolism, mineralization defects, and phosphate deficiency has not been recognized as a complication of PBC.

Case presentation: We report the case of a 49-year-old Japanese woman who complained of multiple fractures. Hypophosphatemic osteomalacia was diagnosed from a low serum phosphorus level, 1,25-dihydroxyvitamin D3 level, high levels of bone specific alkaline phosphatase and the findings of bone scintigraphy, although a bone biopsy was not performed. Twenty four hour urine demonstrated a low renal fractional tubular reabsorption of phosphate, increased fractional excretion of uric acid and generalized aminoaciduria. An intravenous bicarbonate loading test suggested the presence of proximal renal tubular acidosis (RTA). These biochemical data indicated Fanconi syndrome with proximal RTA. A kidney biopsy demonstrated the features of tubulointerstitial nephritis (TIN). The patient was also suspected as having primary biliary cirrhosis (PBC) because of high levels of alkaline phosphatase, IgM and the presence of anti-mitochondrial M2 antibody, though biochemical liver function was normal. Sequential liver biopsy was compatible with PBC and the diagnosis of PBC was definite. After administration of 1,25 dihydroxyvitamin D3, neutral potassium phosphate, sodium bicarbonate for osteomalacia and subsequent predonizolone for TIN, symptoms of fractures were relieved and renal function including Fanconi syndrome was ameliorated.

Conclusion: In this case, asymptomatic PBC was shown to induce TIN with Fanconi syndrome with dysregulation of electrolytes and vitamin D metabolism, which in turn led to osteomalacia with multiple fractures. Osteomalacia has not been recognized as a result of the renal involvement of PBC. PBC and its rare complication of TIN with Fanconi syndrome should be considered in adult patients with unexplained osteomalacia even in the absence of liver dysfunction.

No MeSH data available.


Related in: MedlinePlus