| CASE REPORT |
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| Year : 2022 | Volume
: 5
| Issue : 2 | Page : 91-94 |
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Medullary nephrocalcinosis: The role of genetic analysis
Nidhi Gupta1, Manoj Dhanorkar2, Manas Ranjan Behera1, Dharmendra Bhadauria1
1 Department of Nephrology and Renal Transplant, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
2 Department of Nephrology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
Correspondence Address:
Nidhi Gupta
Department of Nephrology and Renal Transplant, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow - 226 014, Uttar Pradesh
India
 Source of Support: None, Conflict of Interest: None
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Nephrocalcinosis refers to the deposits of calcium within the renal parenchyma, usually detected on ultrasonography or computed tomography. The presence of medullary nephrocalcinosis may represent a variety of different etiologies. Early childhood onset of kidney stones and/or nephrocalcinosis often represent an inherited defect more frequently than in adults. The cases reported here highlight three different diseases that were diagnosed based on genetic analysis following presentation as medullary nephrocalcinosis in childhood.
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