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

Amelogenesis imperfecta and nephrocalcinosis syndrome

V Chaitanya, B Sangeetha, P Sandeep, B Varalaxmi, A. V. S. S. N. Sridhar, G Aparna, M Venkateswarlu, R Ram, VS Kumar 
 Department of Nephrology and SVIMS, Tirupati, India

Correspondence Address:
R Ram
Department of Nephrology and SVIMS, Tirupati
India

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;24:260-261

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 May 23 ];24:260-261
Available from: https://www.indianjnephrol.org/text.asp?2014/24/4/260/133043

Full Text

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}{Figure 2}

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

1Crawford PJ, Aldred M, Bloch-Zupan A. Amelogenesis imperfecta. Orphanet J Rare Dis 2007;2:17.
2Martelli-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.
3Jaureguiberry 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.
4Martelli-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.
5Ravi P, Ekambaranath TS, Arasi SE, Fernando E. Distal renal tubular acidosis and amelogenesis imperfecta: A rare association. Indian J Nephrol 2013;23:452-5.