An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria
Journal of Pathology and Translational Medicine
;
: 160-164, 2016.
Artigo
em Inglês
| WPRIM
| ID: wpr-119407
ABSTRACT
Bartter syndrome (BS) I-IV is a rare autosomal recessive disorder affecting salt reabsorption in the thick ascending limb of the loop of Henle. This report highlights clinicopathological findings and genetic studies of classic BS in a 22-year-old female patient who presented with persistent mild proteinuria for 2 years. A renal biopsy demonstrated a mild to moderate increase in the mesangial cells and matrix of most glomeruli, along with marked juxtaglomerular cell hyperplasia. These findings suggested BS associated with mild IgA nephropathy. Focal tubular atrophy, interstitial fibrosis, and lymphocytic infiltration were also observed. A genetic study of the patient and her parents revealed a mutation of the CLCNKB genes. The patient was diagnosed with BS, type III. This case represents an atypical presentation of classic BS in an adult patient. Pathologic findings of renal biopsy combined with genetic analysis and clinicolaboratory findings are important in making an accurate diagnosis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pais
/
Proteinúria
/
Atrofia
/
Síndrome de Bartter
/
Biópsia
/
Fibrose
/
Diagnóstico
/
Células Mesangiais
/
Extremidades
/
Glomerulonefrite por IGA
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Journal of Pathology and Translational Medicine
Ano de publicação:
2016
Tipo de documento:
Artigo
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