Clin Nephrol
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To investigate the renal pathological characteristics, renal outcomes and risk factors in lupus nephritis (LN) patients qualified as familial systemic lupus erythematosus (SLE). ⋯ Renal insufficiency at biopsy of familial SLE patients predicted poor renal outcome. Most renal laboratory and pathological features between familial and sporadic SLE were broadly similar. .
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Review Case Reports
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report .
Adenine phosphoribosyltransferase (APRT) deficiency (OMIM #614723) is a rare autosomal recessive defect in the purine salvage pathway that causes excessive production of 2,8-dihydroxyadenine, leading to nephrolithiasis and chronic kidney disease (CKD). This case report describes the natural history of CKD in untreated APRT deficiency. We describe a novel APRT mutation (chr16:88877985 G / C; c.195 C>/G; p. ⋯ APRT deficiency is associated with slowly progressive CKD that occurs independently of nephrolithiasis. Diagnosis should be considered in all individuals with chronic tubulointerstitial kidney disease, with or without the presence of nephrolithiasis. In our patient, allopurinol 300 mg/day resulted in improvement of kidney function. .