Rare crystalline nephropathy leading to acute graft dysfunction: a case report.
BMC Nephrol
; 20(1): 428, 2019 11 21.
Article
en En
| MEDLINE
| ID: mdl-31752739
ABSTRACT
BACKGROUND:
Adenine phosphoribosyl transferase (APRT) deficiency is a rare genetic form of kidney stones and/or kidney failure characterized by intratubular precipitation of 2,8 dihydroxyadenine crystals. Early diagnosis and prompt management can completely reverse the kidney injury. CASE PRESENTATION 44 year old Indian male, renal transplant recipient got admitted with acute graft dysfunction. Graft biopsy showed light brown refractile intratubular crystals with surrounding giant cell reaction, consistent with APRT deficiency. Patient improved after receiving allopurinol and hydration.CONCLUSION:
APRT forms a reversible cause of crystalline nephropathy. High index of suspicion is required for the correct diagnosis as timely diagnosis has therapeutic implications.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Adenina
/
Adenina Fosforribosiltransferasa
/
Trasplante de Riñón
/
Urolitiasis
/
Disfunción Primaria del Injerto
/
Errores Innatos del Metabolismo
Tipo de estudio:
Screening_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
BMC Nephrol
Asunto de la revista:
NEFROLOGIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
India