Medullary Nephrocalcinosis – Unraveling a Mystery
This is a case report of Bartter syndrome type 2 being diagnosed in an adult patient during evaluation for end stage kidney disease. This 29-year old woman first presented during her first pregnancy with proteinuria and on evaluation she was found to have medullary nephrocalcinosis with hypercalciur...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-04-01
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| Series: | Indian Journal of Kidney Diseases |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ijkd.ijkd_20_23 |
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| Summary: | This is a case report of Bartter syndrome type 2 being diagnosed in an adult patient during evaluation for end stage kidney disease. This 29-year old woman first presented during her first pregnancy with proteinuria and on evaluation she was found to have medullary nephrocalcinosis with hypercalciuria. She had complicated antenatal period during her all three pregnancies, with two adverse pregnancy outcomes. She progressed to end stage kidney disease over a period of ten years. During the evaluation of family members for prospective kidney donation, her elder sister also was found to have similar ultrasound findings of medullary nephrocalcinosis. A renal biopsy of the elder sister was inconclusive. Hence, genetic testing was advised. A homozygous missense variant in the KCNJ1 gene was identified by focused exome sequencing suggesting Bartter syndrome type 2 phenotype. Bartter syndrome type 2 presents perinatally with the life-threatening salt-wasting syndrome. As there were no overt manifestations in our patient, a retrospective analysis was done, which was significant only for alkalosis, hypercalciuria, and normal blood pressure, with no evidence of hypokalemia or hyponatremia. We are presenting this case of Bartter syndrome type 2 not only to highlight its rare clinical presentation in adulthood but also to emphasize its asymptomatic course in our patient concluding in end-stage renal disease over a 10-year period. |
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| ISSN: | 2950-0761 |