Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report
| Autor: | Kendrah Kidd, Benjamin Cochran, Angela G Niehaus, Stanislav Kmoch, Alex Bonnecaze, Anthony J. Bleyer, Tereza Kovačíková, Gowrie Balasubraminiam, Amret T. Hawfield, Martina Živná, Aleš Hnízda, Kateřina Hodaňová, Irene Ceballos-Picot |
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| Rok vydání: | 2018 |
| Předmět: |
Male
medicine.medical_specialty Antimetabolites Allopurinol medicine.medical_treatment Adenine Phosphoribosyltransferase 030232 urology & nephrology Adenine phosphoribosyltransferase Urology Renal function 030204 cardiovascular system & hematology Nephropathy Kidney Calculi 03 medical and health sciences 0302 clinical medicine Urolithiasis medicine Humans Renal Insufficiency Chronic Dialysis Kidney business.industry Phosphoribosyl transferase General Medicine Middle Aged medicine.disease medicine.anatomical_structure Nephrology Nephritis Interstitial business Metabolism Inborn Errors Glomerular Filtration Rate medicine.drug Kidney disease |
| Zdroj: | Clinical Nephrology. 90:296-301 |
| ISSN: | 0301-0430 |
| DOI: | 10.5414/cn109460 |
| Popis: | 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.His54Asp) presenting with CKD without nephrolithiasis. The patient initially required dialysis, but kidney function improved with allopurinol. We reviewed APRT deficiency reported in the literature to determine the loss of kidney function in individuals with untreated APRT deficiency and its relationship to nephrolithiasis. We identified 95 individuals in whom kidney function was assessed prior to treatment. There was a bimodal distribution of kidney failure. AKI occurred frequently in childhood due to obstructing nephrolithiasis or crystalline nephropathy and was usually reversible. CKD developed after age 20 in all patients irrespective of nephrolithiasis history, with 36/42 patients > 40 years of age having at least stage 3 CKD, and 24/42 having an eGFR > 10 mL/min/1.73m2 or being on dialysis. There were 13 adults without nephrolithiasis and 50 adults with nephrolithiasis. The mean age of end-stage renal diesease (ESRD) was 50.52 ± 13.9 for those without nephrolithiasis and 43.4 ± 15.8 years for those with nephrolithiasis (p = 0.24). 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. . |
| Databáze: | OpenAIRE |
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