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  Table of Contents  
Year : 2014  |  Volume : 24  |  Issue : 4  |  Page : 260-261

Amelogenesis imperfecta and nephrocalcinosis syndrome

Department of Nephrology and SVIMS, Tirupati, India

Date of Web Publication04-Jan-2014

Correspondence Address:
R Ram
Department of Nephrology and SVIMS, Tirupati
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-4065.133043

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How to cite this article:
Chaitanya V, Sangeetha B, Sandeep P, Varalaxmi B, Sridhar A, Aparna G, Venkateswarlu M, Ram R, Kumar V S. Amelogenesis imperfecta and nephrocalcinosis syndrome. Indian J Nephrol 2014;24:260-1

How to cite this URL:
Chaitanya V, Sangeetha B, Sandeep P, Varalaxmi B, Sridhar A, Aparna G, Venkateswarlu M, Ram R, Kumar V S. Amelogenesis imperfecta and nephrocalcinosis syndrome. Indian J Nephrol [serial online] 2014 [cited 2022 Nov 28];24:260-1. Available from:

An 18-year-old boy presented with pain in left flank of 2 days duration. He had no history of oliguria, dysuria, pyuria, hematuria, graveluria or swelling of feet or face. Examination revealed yellow colored teeth. The labial surfaces of lower teeth showed irregular horizontal enamel defects [Figure 1]. Rest of the general and systemic examination was unremarkable. Ultrasound abdomen revealed bilateral nephrocalcinosis. It was confirmed on a computed tomography [Figure 2]. The other investigations showed serum creatinine to be 0.9 mg/dl, blood urea 24 mg/dl, sodium 138 meEq/l, potassium 4.5 mEq/l, calcium 9.2 mg/dl, inorganic phosphate 3.2 mg/dl, alkaline phosphatase 180 IU/l, parathormone 69 pg/ml, vitamin D 25 ng/ml, bicarbonate 24 mmol/l and urine pH: 5.5. His parents' marriage was a consanguineous one. His elder brother and father also had yellow colored teeth. He was diagnosed amelogenesis imperfecta (AI) of hypoplastic type with nephrocalcinosis syndrome.
Figure 1: Yellow teeth with horizontal enamel defects

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Figure 2: Computed tomography scan abdomen: Nephrocalcinosis

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AI represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner. The prevalence varies from 1:700 to 1:14,000. It may show autosomal dominant, autosomal recessive, sex-linked and sporadic inheritance patterns. [1] The association of AI and nephrocalcinosis was reported in 10 patients till now. [2] The autosomal recessive disorder, in which there are FAM20A gene mutations, causes nephrocalcinosis and AI (enamel renal syndrome). [3] AI is also reported to be associated with Bartter's syndrome [4] and distal renal tubular acidosis. [5]

  References Top

1.Crawford PJ, Aldred M, Bloch-Zupan A. Amelogenesis imperfecta. Orphanet J Rare Dis 2007;2:17.  Back to cited text no. 1
2.Martelli-Júnior H, dos Santos Neto PE, de Aquino SN, de Oliveira Santos CC, Borges SP, Oliveira EA, et al. Amelogenesis imperfecta and nephrocalcinosis syndrome: A case report and review of the literature. Nephron Physiol 2011;118:62-5.  Back to cited text no. 2
3.Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, et al. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol 2012;122:1-6.  Back to cited text no. 3
4.Martelli-Júnior H, Ferreira SP, Pereira PC, Coletta RD, de Aquino SN, Miranda DM, et al. Typical features of amelogenesis imperfecta in two patients with bartter′s syndrome. Nephron Extra 2012;2:319-25.  Back to cited text no. 4
5.Ravi P, Ekambaranath TS, Arasi SE, Fernando E. Distal renal tubular acidosis and amelogenesis imperfecta: A rare association. Indian J Nephrol 2013;23:452-5.  Back to cited text no. 5
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