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

Shintaro Yamaguchi, Tatsuya Maruyama, Shu Wakino, Hirobumi Tokuyama, Akinori Hashiguchi, Shinichiro Tada, Koichiro Honma, Toshiaki Monkawa, Jameschristopher C Thomas, Kazutoshi Miyashita, Isao Kurihara, Tadashi Yoshida, Konosuke Konishi, Koichi Hayashi, Matsuhiko Hayashi, Hiroshi Itoh

Research output: Contribution to journalArticle

6 Citations (Scopus)

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). 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.

Original languageEnglish
JournalBMC Nephrology
DOIs
Publication statusAccepted/In press - 2015 Nov 11

Fingerprint

Fanconi Syndrome
Interstitial Nephritis
Osteomalacia
Biliary Liver Cirrhosis
Renal Tubular Acidosis
Kidney
Bone and Bones
Vitamin D
Liver Diseases
Phosphates
Biopsy
Calcitriol
Bone Diseases
Bicarbonates
Uric Acid
Serum
Radionuclide Imaging
Phosphorus
Electrolytes
Osteoporosis

Keywords

  • Fanconi syndrome
  • Mitochondrial cytopathy
  • Osteomalacia
  • Primary biliary cirrhosis
  • Tubulointerstitial nephritis

ASJC Scopus subject areas

  • Nephrology

Cite this

@article{b2b29f8d6c9842098091897afbee8280,
title = "A case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis",
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). 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.",
keywords = "Fanconi syndrome, Mitochondrial cytopathy, Osteomalacia, Primary biliary cirrhosis, Tubulointerstitial nephritis",
author = "Shintaro Yamaguchi and Tatsuya Maruyama and Shu Wakino and Hirobumi Tokuyama and Akinori Hashiguchi and Shinichiro Tada and Koichiro Honma and Toshiaki Monkawa and Thomas, {Jameschristopher C} and Kazutoshi Miyashita and Isao Kurihara and Tadashi Yoshida and Konosuke Konishi and Koichi Hayashi and Matsuhiko Hayashi and Hiroshi Itoh",
year = "2015",
month = "11",
day = "11",
doi = "10.1186/s12882-015-0184-4",
language = "English",
journal = "BMC Nephrology",
issn = "1471-2369",
publisher = "BioMed Central",

}

TY - JOUR

T1 - A case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis

AU - Yamaguchi, Shintaro

AU - Maruyama, Tatsuya

AU - Wakino, Shu

AU - Tokuyama, Hirobumi

AU - Hashiguchi, Akinori

AU - Tada, Shinichiro

AU - Honma, Koichiro

AU - Monkawa, Toshiaki

AU - Thomas, Jameschristopher C

AU - Miyashita, Kazutoshi

AU - Kurihara, Isao

AU - Yoshida, Tadashi

AU - Konishi, Konosuke

AU - Hayashi, Koichi

AU - Hayashi, Matsuhiko

AU - Itoh, Hiroshi

PY - 2015/11/11

Y1 - 2015/11/11

N2 - 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). 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.

AB - 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). 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.

KW - Fanconi syndrome

KW - Mitochondrial cytopathy

KW - Osteomalacia

KW - Primary biliary cirrhosis

KW - Tubulointerstitial nephritis

UR - http://www.scopus.com/inward/record.url?scp=84946423138&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84946423138&partnerID=8YFLogxK

U2 - 10.1186/s12882-015-0184-4

DO - 10.1186/s12882-015-0184-4

M3 - Article

C2 - 26554665

AN - SCOPUS:84946423138

JO - BMC Nephrology

JF - BMC Nephrology

SN - 1471-2369

ER -