Academic Journal
A rare genetic mutation in a stone former
| العنوان: | A rare genetic mutation in a stone former |
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| المؤلفون: | T Yashwanth Raj, Periandavan Kalaiselvi, Pugazhendhi Kannan, Sujit Suren, M Edwin Fernando |
| المصدر: | Indian Journal of Nephrology, Vol 31, Iss 2, Pp 197-200 (2021) |
| بيانات النشر: | Wolters Kluwer Medknow Publications |
| سنة النشر: | 2021 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | adenosine phosphoribosyl transferase, chronic kidney disease, 8-dihydroxyadenine nephropathy, genetic mutation, Diseases of the genitourinary system. Urology, RC870-923 |
| Time: | 2 |
| الوصف: | A 30-year-old woman with history of passage of stones since childhood presented with oliguria and pedal edema for 10 days. She had hypertension with a creatinine of 4.1 mg/dL. Evaluation showed presence of bilateral multiple renal calculi with features of chronicity of kidney disease. Metabolic work-up for nephrolithiasis turned out to be negative and eventually renal biopsy revealed features of chronic interstitial nephritis with greenish brown refractile crystals in the tubular lumen and interstitium. The possibility of dihydroxy adenine crystalline nephropathy was considered. Spectrophotometry of RBC lysates revealed decreased activity of Adenine phosphoribosyl-transferase enzyme. Gene amplification by PCR and sequential analysis identified a missense mutation in exon 3 region of APRT gene in the patient and her family members. This case report highlights the need to contemplate the diagnosis of DHA crystalline nephropathy in young patients with nephrolithiasis and the identification of a rare genetic mutation, which is being reported for the first time in India. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0971-4065 1998-3662 |
| Relation: | http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=2;spage=197;epage=200;aulast=Raj; https://doaj.org/toc/0971-4065; https://doaj.org/toc/1998-3662; https://doaj.org/article/377e787b49e74365ac2011c01be8e83d |
| DOI: | 10.4103/ijn.IJN_366_19 |
| الاتاحة: | https://doi.org/10.4103/ijn.IJN_366_19 https://doaj.org/article/377e787b49e74365ac2011c01be8e83d |
| رقم الانضمام: | edsbas.CE46A8E2 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 09714065 19983662 |
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| DOI: | 10.4103/ijn.IJN_366_19 |