Electrolyte Blood Press.  2018 Dec;16(2):19-22. 10.5049/EBP.2018.16.2.19.

Adult Idiopathic Renal Fanconi Syndrome: A Case Report

Affiliations
  • 1Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. kimgh@hanyang.ac.kr
  • 2Department of Pathology, Hanyang University College of Medicine, Seoul, Korea.

Abstract

Renal Fanconi syndrome (RFS) is caused by generalized proximal tubular dysfunction and can be divided into hereditary and acquired form. Adult-onset RFS is usually associated with drug toxicity or systemic disorders, and modern molecular genetics may explain the etiology of previous idiopathic cases of RFS. Here, we report the case of a 52-year-old woman with RFS whose etiology could not be identified. She presented with features of phosphaturia, renal glucosuria, aminoaciduria, tubular proteinuria, and proximal renal tubular acidosis. Her family history was unremarkable, and previous medications were nonspecific. Her bone mineral density was compatible with osteoporosis, serum intact parathyroid hormone level was mildly elevated, and 25(OH) vitamin D level was insufficient. Her blood urea nitrogen and serum creatinine levels were 8.4 and 1.19 mg/dL, respectively (estimated glomerular filtration rate, 53 mL/min/1.73 m²). Percutaneous renal biopsy was performed but revealed no specific renal pathology, including mitochondrial morphology. No mutation was detected in EHHADH gene. We propose the possibility of involvement of other genes or molecules in this case of adult RFS.

Keyword

EHHADH gene; Idiopathic Fanconi syndrome; Osteoporosis; Phosphaturia; Renal tubular acidosis

MeSH Terms

Acidosis, Renal Tubular
Adult*
Biopsy
Blood Urea Nitrogen
Bone Density
Creatinine
Drug-Related Side Effects and Adverse Reactions
Fanconi Syndrome*
Female
Glomerular Filtration Rate
Glycosuria, Renal
Humans
Hypophosphatemia, Familial
Middle Aged
Molecular Biology
Osteoporosis
Parathyroid Hormone
Pathology
Proteinuria
Vitamin D
Creatinine
Parathyroid Hormone
Vitamin D

Figure

  • Fig. 1 Kidney biopsy findings. A: Light microscopy shows normal glomerular and tubulointerstitial architectures. B: Electron microscopy reveals unremarkable mitochondrial ultrastructure. C: Immunohistochemistry for Na/K-ATPase α1 subunit shows intact labeling along the basolateral membrane of the proximal tubule.


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