A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings

TATLI, Mansur; Alparslan, Caner; MUTLUBAŞ, FATMA; Yavascan, Onder; ÖNCEL, ELİF PERİHAN; KONRAD, Martin; Alaygut, Demet; Akbay Ak, Sinem; KASAP DEMİR, Belde

A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings

Caner Alparslan, (İzmir Tepecik Eğitim ve Araştırma Hastanesi, İzmir, Türkiye)

Elif Perihan Öncel, (İzmir Tepecik Eğitim ve Araştırma Hastanesi, İzmir, Türkiye)

Sinem Akbay, (İzmir Katip Çelebi Üniversitesi, İzmir, Türkiye)

Demet Alaygut, (İzmir Tepecik Eğitim ve Araştırma Hastanesi, İzmir, Türkiye)

Fatma Mutlubaş, (İzmir Tepecik Eğitim ve Araştırma Hastanesi, İzmir, Türkiye)

Mansur Tatlı, (İzmir Katip Çelebi Üniversitesi, İzmir, Türkiye)

Martin Konrad, (Department of General Pediatrics, University Children’s Hospital, Münster, Germany)

Önder Yavaşcan, (İzmir Tepecik Eğitim ve Araştırma Hastanesi, İzmir, Türkiye)

Belde KASAP DEMİR (İzmir Katip Çelebi Üniversitesi, İzmir, Türkiye)

Turkish Journal of Pediatrics

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Yıl: 2018 Cilt: 60 Sayı: 1 Sayfa Aralığı: 76 - 80 Metin Dili: İngilizce İndeks Tarihi: 22-07-2020

A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings

Öz:

Familial hypomagnesemic hypercalciuric nephrocalcinosis (FHHNC)(OMIM: 248250) is characterized by hypomagnesemia, hypercalciuria andnephrocalcinosis. FHHNC inevitably progresses to end-stage renal diseasein decades. Mutations in CLDN-16 and CLDN-19 genes are associated withdisrupted magnesium handling in the thick ascending limp of Henle’s loop.Patients with mutations in these genes share similar clinical features, andthose with CLDN-19 gene mutations have ocular findings in addition.A 2-month-old boy, was admitted to our clinic with the complaints of upperrespiratory tract infection. He was the first-born child of consanguineousparents. Laboratory findings revealed hypocalcemia and hypomagnesemia.Bilateral medullary nephrocalcinosis was detected on abdominal ultrasound.His ophthalmologic examination was unremarkable. With hypomagnesemia,hypercalciuria and nephrocalcinosis, the patient was considered to have FHHNC.Oral magnessium supplementation was initiated. Four years of follow-up hasbeen completed uneventfully.When 6-days-old the brother of the case above was admitted with seizure.The patient was resistant to calcium and anticonvulsant drugs and the seizureactivity could only be controlled after magnesium infusion. Biochemistry profilerevealed hypocalcemia and hypomagnesemia. Urinary calcium extraction was11 mg/kg/day. Medullary nephrocalcinosis was reported on renal ultrasound.His eye examination, echocardiography, transfontanel ultrasound andelectroencephalography were normal. Due to the triad of hypomagnesemia,hypercalciuria and nephrocalcinosis, and the medical history of his elderbrother, he was diagnosed with FHHNC. After correction of the electrolyteabnormalities, he was discharged from hospital and is currently being followedup without any problem.In this manuscript, we shared our experience about a novel homozygousmutation (W99C) in CLDN-16 gene causing FHHNC in a couple of Turkishsiblings.

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APA	Alparslan C, ÖNCEL E, Akbay Ak S, Alaygut D, MUTLUBAŞ F, TATLI M, KONRAD M, Yavascan O, KASAP DEMİR B (2018). A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. , 76 - 80.
Chicago	Alparslan Caner,ÖNCEL ELİF PERİHAN,Akbay Ak Sinem,Alaygut Demet,MUTLUBAŞ FATMA,TATLI Mansur,KONRAD Martin,Yavascan Onder,KASAP DEMİR Belde A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. (2018): 76 - 80.
MLA	Alparslan Caner,ÖNCEL ELİF PERİHAN,Akbay Ak Sinem,Alaygut Demet,MUTLUBAŞ FATMA,TATLI Mansur,KONRAD Martin,Yavascan Onder,KASAP DEMİR Belde A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. , 2018, ss.76 - 80.
AMA	Alparslan C,ÖNCEL E,Akbay Ak S,Alaygut D,MUTLUBAŞ F,TATLI M,KONRAD M,Yavascan O,KASAP DEMİR B A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. . 2018; 76 - 80.
Vancouver	Alparslan C,ÖNCEL E,Akbay Ak S,Alaygut D,MUTLUBAŞ F,TATLI M,KONRAD M,Yavascan O,KASAP DEMİR B A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. . 2018; 76 - 80.
IEEE	Alparslan C,ÖNCEL E,Akbay Ak S,Alaygut D,MUTLUBAŞ F,TATLI M,KONRAD M,Yavascan O,KASAP DEMİR B "A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings." , ss.76 - 80, 2018.
ISNAD	Alparslan, Caner vd. "A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings". (2018), 76-80.

APA	Alparslan C, ÖNCEL E, Akbay Ak S, Alaygut D, MUTLUBAŞ F, TATLI M, KONRAD M, Yavascan O, KASAP DEMİR B (2018). A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. Turkish Journal of Pediatrics, 60(1), 76 - 80.
Chicago	Alparslan Caner,ÖNCEL ELİF PERİHAN,Akbay Ak Sinem,Alaygut Demet,MUTLUBAŞ FATMA,TATLI Mansur,KONRAD Martin,Yavascan Onder,KASAP DEMİR Belde A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. Turkish Journal of Pediatrics 60, no.1 (2018): 76 - 80.
MLA	Alparslan Caner,ÖNCEL ELİF PERİHAN,Akbay Ak Sinem,Alaygut Demet,MUTLUBAŞ FATMA,TATLI Mansur,KONRAD Martin,Yavascan Onder,KASAP DEMİR Belde A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. Turkish Journal of Pediatrics, vol.60, no.1, 2018, ss.76 - 80.
AMA	Alparslan C,ÖNCEL E,Akbay Ak S,Alaygut D,MUTLUBAŞ F,TATLI M,KONRAD M,Yavascan O,KASAP DEMİR B A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. Turkish Journal of Pediatrics. 2018; 60(1): 76 - 80.
Vancouver	Alparslan C,ÖNCEL E,Akbay Ak S,Alaygut D,MUTLUBAŞ F,TATLI M,KONRAD M,Yavascan O,KASAP DEMİR B A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. Turkish Journal of Pediatrics. 2018; 60(1): 76 - 80.
IEEE	Alparslan C,ÖNCEL E,Akbay Ak S,Alaygut D,MUTLUBAŞ F,TATLI M,KONRAD M,Yavascan O,KASAP DEMİR B "A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings." Turkish Journal of Pediatrics, 60, ss.76 - 80, 2018.
ISNAD	Alparslan, Caner vd. "A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings". Turkish Journal of Pediatrics 60/1 (2018), 76-80.