Adult Idiopathic Renal Fanconi Syndrome: A Case Report
- Author:
Dae Jin PARK
1
;
Ki Seok JANG
;
Gheun Ho KIM
Author Information
- Publication Type:Case Report
- Keywords: EHHADH gene; Idiopathic Fanconi syndrome; Osteoporosis; Phosphaturia; Renal tubular acidosis
- MeSH: 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
- From:Electrolytes & Blood Pressure 2018;16(2):19-22
- CountryRepublic of Korea
- Language:English
- 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.
