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01.12.2014 | Case report | Ausgabe 1/2014 Open Access

Journal of Medical Case Reports 1/2014

Familial mixed nephrocalcinosis as a cause of chronic kidney failure: two case reports

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2014
Autoren:
Pedro Francisco Ferraz de Arruda, Márcio Gatti, José Germano Ferraz de Arruda, Fernando Nestor Fácio Jr, Luis Cesar Fava Spessoto, Laísa Ferraz de Arruda, José Maria Pereira de Godoy, Moacir Fernandes Godoy
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1752-1947-8-355) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

PFFA contributed to the conception and design of the report; acquisition, analysis and interpretation of the data; and drafting of the final manuscript. MG contributed to the acquisition and analysis of the data. JGFA contributed to the interpretation of the data and drafting of the final manuscript. FNF and LCFS contributed to the analysis and interpretation of the data. LFA contributed to the analysis and interpretation of the data and drafting of the final manuscript. JMPG contributed to the acquisition and analysis of the data and drafting of the final manuscript. MFG contributed to the conception and design of the report, the analysis and interpretation of the data, and drafting of the final manuscript. All authors read and approved the final manuscript.

Abstract

Introduction

Nephrocalcinosis consists of the deposition of calcium salts in the renal parenchyma and is considered the mixed form when it involves the renal cortex and medulla. The main etiological agents of this condition are primary hyperparathyroidism, renal tubular acidosis, medullary sponge kidney, hyperoxaluria and taking certain drugs. These factors can lead to hypercalcemia and/or hypercalciuria, which can give rise to nephrocalcinosis.

Case presentations

Patient 1 was a 48-year-old Caucasian woman with a history of bilateral nephrocalcinosis causing chronic kidney failure. Imaging examinations (X-ray, ultrasound and computed tomography of the abdomen) revealed extensive calcium deposits in the renal parenchyma, indicating nephrocalcinosis as the causal factor of the disease. Patient 2 is the 45-year-old brother of patient 1. He exhibited an advanced stage of chronic kidney failure. As nephrocalcinosis is considered to have a genetic component, a family investigation revealed this condition in patient 2.

Conclusion

Nephrocalcinosis may be detected incidentally through diagnostic imaging studies. Whenever possible, treatment should include the base disease that caused the appearance of the calcification, as the precise etiological determination is extremely important.

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Zusatzmaterial
Authors’ original file for figure 1
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Authors’ original file for figure 2
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Authors’ original file for figure 3
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Authors’ original file for figure 4
13256_2014_2976_MOESM4_ESM.doc
Literatur
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