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Case Report of Idiopathic Infantile Hypercalcemia due to homozygous mutation in SLC34A1 gene

Case Report of Idiopathic Infantile Hypercalcemia due to homozygous mutation in SLC34A1 gene

BERAY SELVER EKLİOĞLU, MEHMET EMRE ATABEK, YEŞİM KÜÇÜKKAĞNICI, SERDAR CEYLANER

  •  Year : 2022
  •  Vol : 2
  •  Issue : 2
  •  Page : 75-77

ABSTRACT

Idiopathic infantile hypercalcemia (IHH) is a rare cause of hypercalcemia. It is a disease characterized by dehydration, vomiting and failure to thrive, most commonly caused by mutations in 24-hydroxylase (CYP24A1). Recently, mutations in the sodium phosphate cotransporter (SLC34A1) expressed in the kidney were discovered as an additional cause of idiopathic infantile hypercalcemia. In this article, a case of idiopathic infantile hypercalcemia with bilateral nephrocalcinosis with homozygous mutation in the SLC34A1 gene is presented. Due to the increased risk of nephrocalcinosis and kidney failure, it should be kept in mind especially in patients with a family history of nephrolithiasis and consanguineous marriages.

Key words: Hypercalcemia, nephrolithiasis, infant
Cite this Article As : Küçükkağnıcı Y, Eklioğlu BS, Atabek ME, Ceylaner S. SLC34A1 Genindeki Homozigot Mutasyona Bağlı Gelişen İdiyopatik İnfantil Hiperkalsemili Olgu Sunumu. Mev Med Sci. 2022;2(2): 75-77

Description : Yazarların hiçbiri, bu makalede bahsedilen herhangi bir ürün, aygıt veya ilaç ile ilgili maddi çıkar ilişkisine sahip değildir. Araştırma, herhangi bir dış organizasyon tarafından desteklenmedi.Yazarlar çalışmanın birincil verilerine tam erişim izni vermek ve derginin talep ettiği takdirde verileri incelemesine izin vermeyi kabul etmektedirler. None of the authors, any product mentioned in this article, does not have a material interest in the device or drug. Research, not supported by any external organization. grant full access to the primary data and, if requested by the magazine they agree to allow the examination of data.
Case Report of Idiopathic Infantile Hypercalcemia due to homozygous mutation in SLC34A1 gene, Case Report,
, Vol. 2 (2)
Received : 20.01.2022, Accepted : 12.03.2022 , Published Online : 12.08.2022
Mevlana Tıp Bilimleri
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E-ISSN: 2757-976X ;
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