TY  - JOUR
TI  - A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings
AB  - 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.
AU  - TATLI, Mansur
AU  - Alparslan, Caner
AU  - MUTLUBAŞ, FATMA
AU  - Yavascan, Onder
AU  - ÖNCEL, ELİF PERİHAN
AU  - KONRAD, Martin
AU  - Alaygut, Demet
AU  - Akbay Ak, Sinem
AU  - KASAP DEMİR, Belde
PY  - 2018
JO  - Turkish Journal of Pediatrics
VL  - 60
IS  - 1
SN  - 0041-4301
SP  - 76
EP  - 80
DB  - TRDizin
UR  - http://search/yayin/detay/351557
ER  -