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Familial medullary nephrocalcinosis detected on X-ray in a diabetic female with lithuria, hypocalcemia, and hypomagnesemia

Familial medullary nephrocalcinosis detected on X-ray in a diabetic female with lithuria, hypocalcemia, and hypomagnesemia

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Author Name:

Harish Prabhu

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Article Received:

11/11/2025
 
Article Accepted:

19/11/2025
 
Article Published:

20/11/2025

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Harish Prabhu, Madhuri H. Familial medullary nephrocalcinosis detected on X-ray in a diabetic female with lithuria, hypocalcemia, and hypomagnesemia. Vis Nephrol. 2025; 1(1): 001-002.

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© 2025 Harish Prabhu. This is an open access article distributed under the terms which permits unrestricted use, distribution, and build upon your work non-commercially.

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Discussion

Introduction

We report the case of a 42-year-old obese female with type 2 diabetes mellitus, hypertension, and hypothyroidism who presented with abdominal pain and recurrent urinary tract infections. Laboratory evaluation revealed elevated serum creatinine (216 µmol/L), hypocalcemia, low serum magnesium, vitamin D deficiency, and lithuria on urinalysis. Serum phosphate and bicarbonate were within normal limits. A plain abdominal radiograph (KUB) demonstrated bilateral fine punctate calcifications in the renal medullary pyramids, consistent with medullary nephrocalcinosis. Notably, two of her sisters exhibited similar radiographic findings, suggesting a familial etiology. No evidence of metabolic acidosis or hyperparathyroidism was identified. The patient was managed conservatively with mineral supplementation, metabolic optimization, and prophylaxis for recurrent urinary tract infections.

Medullary nephrocalcinosis represents the deposition of calcium salts within the renal medulla, most often involving the interstitium and collecting tubules of the pyramids [1]. Radiologically, it typically presents as punctate or linear calcifications on plain X-ray, with CT being more sensitive in early stages [2]. Etiologies include hyperparathyroidism, distal renal tubular acidosis, medullary sponge kidney, chronic hypercalcemia, and inherited tubulopathies [3]. The condition may be asymptomatic or present with flank pain, hematuria, or recurrent urinary tract infections, and it can predispose to progressive renal impairment and stone formation [4]. Early recognition and evaluation of underlying causes are crucial to prevent long-term renal damage [5].

References
1. Shavit L, Jaeger P, Unwin RJ. What is nephrocalcinosis? Kidney Int. 2015; 88(1): 35-43. Doi: 10.1038/ki.2015.76.
2. Aldana JC, Rodríguez LC, Bastidas N, Vásquez A. Radiological features of nephrocalcinosis, a common but forgotten entity. Br J Radiol. 2023; 96(1148): 20221096. Doi: 10.1259/bjr.20221096.
3. Dickson FJ, Sayer JA. Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition. Int J Mol Sci. 2020; 21(1); 369.
4. Hoppe B, Kemper MJ. Diagnostic examination of the child with urolithiasis or nephrocalcinosis. Pediatr Nephrol. 2010; 25; 403-413. Doi: 10.1007/s00467-008-1073-x
5. Atlani M, Nirendra Rai, Abhijeet K, Vaibhav I, Agrata S, et al. Nephrocalcinosis – A gateway to the Diagnosis. Indian J Nephrol. 2021; 31(6): 562-565. Doi: 10.4103/ijn.IJN_397_19


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