Cyclosporine A relieved proteinuria and hypoproteinemia in DGKE nephropathy.
Clin Chim Acta
; 518: 78-82, 2021 Jul.
Article
en En
| MEDLINE
| ID: mdl-33741360
ABSTRACT
BACKGROUND:
The DGKE gene encodes the diacylglycerol kinase epsilon (DGKε). Loss-of-function mutations of DGKE caused a group of rare renal diseases, which are called DGKE nephropathy. We report the clinical manifestations and therapeutic effects of a patient diagnosed with DGKE nephropathy. CASE REPORT The patient's initial symptoms were fever, diarrhea, eyelid edema, acute anemia, acute thrombocytopenia, an elevation of plasm D-dimer, proteinuria, microscopic hematuria, without oliguria or renal insufficiency at the age of 7.6 months. Hemolytic uremic syndrome was diagnosed. His proteinuria and hematuria turned out negative 2 months later. Proteinuria was noticed again at the age of 5.5-year old when he was brought to the hospital because of failure to thrive. Since then, he had been noticed with persistent proteinuria.RESULTS:
Genetic analysis revealed 2 novel heterozygous mutations on DGKE of the patient. Renal pathology mimicked membrane proliferative glomerulonephritis (MPGN).CONCLUSIONS:
After a 5-month treatment of cyclosporine A (CsA), proteinuria and hypoproteinemia have relieved apparently. We also observed an improvement of his growth.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome Hemolítico Urémico Atípico
/
Hipoproteinemia
Límite:
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Clin Chim Acta
Año:
2021
Tipo del documento:
Article
País de afiliación:
China