Research & Literature

First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.

Yuan T, Pang Q, Xing X, et al.

Calcified tissue international 2015; (96(4)):265-73 doi:10.1007/s00223-014-9951-7.

Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report.

Yamaguti PM, dos Santos PA, Leal BS, et al.

BMC nephrology 2015; (16()):92 doi:10.1186/s12882-015-0079-4.

Role of claudins in renal calcium handling.

Negri AL

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 2015; (35(4)):347-52.

Biochemical and biophysical analyses of tight junction permeability made of claudin-16 and claudin-19 dimerization.

Gong Y, Renigunta V, Zhou Y, et al.

Molecular biology of the cell 2015; (26(24)):4333-46 doi:10.1091/mbc.E15-06-0422.

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.

Claverie-Martin F

Clinical kidney journal 2015; (8(6)):656-64 doi:10.1093/ckj/sfv081.

Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair.

Sharma S, Place E, Lord K, et al.

Clinical nephrology 2016; (85(6)):346-52 doi:10.5414/CN108783.

A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family.

Lv F, Xu XJ, Wang JY, et al.

Clinica chimica acta; international journal of clinical chemistry 2016; (457()):69-74.

Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report.

Lu J, Zhao X, Paiardini A, et al.

BMC nephrology 2018; (19(1)):181 doi:10.1186/s12882-018-0979-1.

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

Alparslan C, Öncel EP, Akbay S, et al.

The Turkish journal of pediatrics 2018; (60(1)):76-80.

Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Perdomo-Ramirez A, Aguirre M, Davitaia T, et al.

Gene 2019; (689()):227-234 doi:10.1016/j.gene.2018.12.024.

Familial Hypomagnesemia, Hypercalciuria and Nephrocalcinosis with Novel Mutation.

Margabandhu S, Doshi M

Indian journal of nephrology 2019; (29(1)):57-61 doi:10.4103/ijn.IJN_323_17.

A novel CLDN16 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
.

Zhang H, Ling C, Liu X

Clinical nephrology 2019; (92(2)):95-97 doi:10.5414/CN109637.

In-Depth Bioinformatic Study of the CLDN16 Gene and Protein: Prediction of Subcellular Localization to Mitochondria.

Rouka E, Liakopoulos V, Gourgoulianis KI, et al.

Medicina (Kaunas, Lithuania) 2019; (55(8)) doi:10.3390/medicina55080409.

Hypomagnesemia with Hypercalciuria Leading to Nephrocalcinosis, Amelogenesis Imperfecta, and Short Stature in a Child Carrying a Homozygous Deletion in the CLDN16 Gene.

Radonsky V, Kizys MML, Dotto RP, et al.

Calcified tissue international 2020; (107(4)):403-408 doi:10.1007/s00223-020-00726-y.

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

García-Castaño A, Perdomo-Ramirez A, Vall-Palomar M, et al.

Molecular genetics & genomic medicine 2020; (8(11)):e1475 doi:10.1002/mgg3.1475.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Vall-Palomar M, Madariaga L, Ariceta G

Pediatric nephrology (Berlin, Germany) 2021; (36(10)):3045-3055 doi:10.1007/s00467-021-04968-2.

Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations.

Vall-Palomar M, Burballa C, Claverie-Martín F, et al.

Journal of nephrology 2021; (34(6)):2053-2062 doi:10.1007/s40620-021-01054-6.

Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis, and Bilateral Chorioretinal Atrophy in a Patient with Homozygous p.G75S Variant in CLDN19.

Rahmani N, Talebi S, Hooman N, Karamzade A

Journal of pediatric genetics 2021; (10(3)):230-235 doi:10.1055/s-0041-1733852.

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.

Eltan M, Yavas Abali Z, Turkyilmaz A, et al.

Calcified tissue international 2022; (110(4)):441-450 doi:10.1007/s00223-021-00928-y.

Comparison of Renal Stones and Nephrocalcinosis in Children: Findings From Two Tertiary Centers in Saudi Arabia.

Alhasan KA, Shalaby MA, Albanna AS, et al.

Frontiers in pediatrics 2021; (9()):736308 doi:10.3389/fped.2021.736308.

A Novel Mutation in CLDN16 Gene Causing Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis in An Iranian Family.

Malakoutian T, Madadi B, Saber S

Iranian journal of kidney diseases 2022; (16(3)):209-213.

Claudin-19 localizes to the thick ascending limb where its expression is required for junctional claudin-16 localization.

Dimke H, Griveau C, Ling WE, et al.

Annals of the New York Academy of Sciences 2023; (1526(1)):126-137 doi:10.1111/nyas.15014.

Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report.

Bennati G, Cirino M, Benericetti G, et al.

Pharmaceuticals (Basel, Switzerland) 2023; (16(6)) doi:10.3390/ph16060785.

Hypertensive emergency due to a delayed dialysis modality transition in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis: a case report.

Woszczyk D, Płonka M, Różańska M, et al.

European review for medical and pharmacological sciences 2024; (28(9)):3313-3317 doi:10.26355/eurrev_202405_36177.

Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Girón-Ortega M, Morillo Sánchez MJ, Soto-Sierra M, et al.

Ophthalmic genetics 2024; (45(6)):663-667 doi:10.1080/13816810.2024.2390021.

Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection.

Khan AO

Ophthalmic genetics 2025; (46(1)):89-91 doi:10.1080/13816810.2024.2438647.

Bones, Stones, and Hematuria - Connecting the Dots.

Fadnis MP, Kalrao V, Kalra S, Acharya S

Indian journal of nephrology 2025; (35(2)):294-296 doi:10.25259/ijn_531_23.

Assessment of bone status and bone turnover in pediatric patients with familiar hypomagnesemia with hypercalciuria and nephrocalcinosis.

Bieniaś B, Wieczorkiewicz-Płaza A, Zaniew M, et al.

Scientific reports 2025; (15(1)):18486 doi:10.1038/s41598-025-03031-6.

Whole exome sequencing reveals a pathogenic homozygous CLDN16 mutation in a 17-year-old patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis: A case report.

Wang F, Adeerjiang Y, Xing HQ, Jiang S

Medicine 2025; (104(33)):e43839 doi:10.1097/MD.0000000000043839.

Effect of burosumab conversion on calciuria and nephrocalcinosis in children with XLH: A real-world cohort study.

Filler G, Chandrakumaran H, Babalola F, et al.

Bone reports 2025; (27()):101877 doi:10.1016/j.bonr.2025.101877.

Recurrent Nephrolithiasis and Beyond: The Long Diagnostic Odyssey of a Case of CLDN16 Mutation.

Bhuiyan AAN, Akter N, Haq T, et al.

Clinical case reports 2025; (13(12)):e71530 doi:10.1002/ccr3.71530.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN16/CLDN19 mutations in four Chinese families.

Wang C, Ding J, Yang H, et al.

Scientific reports 2026; (16(1)).

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis treated with living-donor kidney transplantation: case report.

Kaba A, Kaku K, Shingaki K, et al.

CEN case reports 2026; (15(3)).

Continuous subcutaneous recombinant PTH(1-34) infusion improves serum calcium and phosphate homeostasis in children with autosomal dominant hypocalcemia type 1 refractory to standard-of-care treatment.

Vincent A, Kamenický P, Berkenou J, et al.

European journal of endocrinology 2026; (194(5)):715-723 doi:10.1093/ejendo/lvag089.

Kidney Transplantation From a Heterozygous CLDN19 Carrier in a Child With FHHNC: A 2-Year Follow-Up.

Erdoğan H, Danışoğlu ME, Çelik H, et al.

Pediatric transplantation 2026; (30(10)):e70495 doi:10.1111/petr.70495.

Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis: A Case Report of Compound Heterozygous Variants in the CLDN16 Gene Inherited From Symptomatic Heterozygous Carriers.

Ceol M, Sgrò E, Anglani F, et al.

Case reports in nephrology and dialysis 2026; (16(1)):162-170 doi:10.1159/cnd/abxag006.