Adult Idiopathic Renal Fanconi Syndrome: A Case Report
Electrolytes & Blood Pressure
;
: 19-22, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-739605
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteoporose
/
Hormônio Paratireóideo
/
Patologia
/
Proteinúria
/
Acidose Tubular Renal
/
Vitamina D
/
Biópsia
/
Nitrogênio da Ureia Sanguínea
/
Densidade Óssea
/
Creatinina
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Electrolytes & Blood Pressure
Ano de publicação:
2018
Tipo de documento:
Artigo
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