[1] Fuente R,Gil-Peña H,Claramunt-Taberner.X-linked hypophosphatemia and growth[J].Rev Endocr Metab Disord,2017,18(1),107-115.
[2] Bitzan M,Goodyer PR.Hypophosphatemic Rickets[J].Pediatr Clin N Am,2019,66(1):179-207.
[3] Chesher D,Oddy M,Darbar U,et al.Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations[J].J Inherit Metab Dis,2018,41(5):865-876.
[4] Ran Q,Xiong F,Zhu M et al.Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets:an analysis of 2 cases[J].CJCP,2017,19(5):534-538.
[5] Kinoshita Y,Saito T,Shimizu Y,et al.Mutational analysis of patients with FGF23-related hypophosphatemic rickets[J].Eur J Endocrinol,2012,167(2):165-172.
[6] Li SS,Gu JM,Yu WJ,et al.Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets[J].Int J Mol Med,2016,38(6):1703-1714.
[7] 李恬恬,张立琴.X-连锁低血磷性抗维生素D佝偻病基因突变研究进展[J].中国儿童保健杂志,2017,25(12):1233-1235.
[8] Guven A,Al-Rijjal RA,Binessa HA,et al.Mutational analysis of PHEX,FGF23 and CLCN5 in patients with hypophosphataemic rickets[J].Clin Endocr,2017,87(1),103-112.
[9] Seton M,Jüppner H.Autosomal dominant hypophosphatemic rickets in an 85 year old woman:characterization of her disease from infancy through adulthood[J].Bone,2013,52:640-643.
[10] Mualla H,Bae SA,Yaqub A.Autosomal dominant hypophosphatemic rickets presenting in a phenotypically normal adult female[J].Case Rep Endocrinol,2019,2019:8917519.
[11] Liu C,Zhao Z,Wang O,et al.Earlier onset in autosomal dominant hypophosphatemic rickets of R179 than R176 mutations in fibroblast growth factor 23:report of 20 Chinese cases and review of the Literature[J].Calcif Tissue Int,2019,105(5):476-486.
[12] Razali NN,Hwu TT,Thilakavathy K.Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets[J].JPEM,2015,28 (9-10):1009-1017.
[13] Mäkitie O,Pereira RC,Kaitila I,et al.Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation[J].J Bone Miner Res,2010,25:2165-2174.
[14] Ichikawa S,Gerard-O′Riley RL,Acton D,et al.A mutation in the Dmp1 gene alters phosphate responsiveness in mice[J].Endocrinology,2017,158(3):470-476.
[15] Rowe PS.A unified model for bone-renal mineral andenergy metabolism[J].Curr Opin Pharmacol,2015,22:64-71..
[16] Saito T,Shimizu Y,Hori M,et al.A patient withhypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene[J].Bone,2011,49(4):913-916.
[17] Acar S,Demir K,Shi Y.Genetic causes of rickets[J].Clin Res Pediatri Endocrinol,2017,9(Suppl 2):88-105.
[18] Iole B,Tosello Barthélémy,Sophie H,et al.Generalized arterial calcification of infancy with a novel ENPP1 mutation:a case report[J].BMC Pediatrics,2018,18(1):217.
[19] Erben RG.alpha-Klotho′s effects on mineral homeostasis are fibroblast growth factor-23 dependent[J].Curr Opin Nephrol Hypertens,2018,27(4):229-235.
[20] Clemens B,Ken-Ichi M.Hereditary hypophosphatemic rickets with hypercalciuria:pathophysiology,clinical presentation,diagnosis and therapy[J].Pflugers Arch,2019,471(1):149-163.
[21] Yu Y,Sanderson SR,Reyes M,et al.NovelNaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families:long-term follow-up in one kindred[J].Bone,2012;50(5):1100-1106.
[22] Hasani-Ranjbar S,Ejtahed HS,Amoli MM,et al.SLC34A3 intronic deletion in an Iranian Kindred with hereditary hypophosphatemic rickets with hypercalciuria[J].J Clin Res Pediatr Endocrinol,2018,10(4):343-349.
[23] Dhir G,Li D,Hakonarson H,et al.Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c[J].Bone,2016,97:15.
[24] Demir K,Y1ld1z M,Bahat H,et al.Clinical heterogeneity and phenotypic expansion of NaPi-IIa-associated disease[J].Clin Endocrinol Metab,2017,12(102):4604-4614,
[25] Karim Z,Gerard B,Bakouh N,et al.NHERF1 mutations and responsiveness of renal parathyroid hormone[J].New Eng J Med,2008,359:1128-1135.
[26] Tosetto E,Ceol M,Mezzabotta F,et al.Novel mutations of the CLCN5 gene including a complex allele and a 5-prime UTR mutation in Dent disease 1.(Letter) Clin[J].Genet,2009,76:413-416
[27] Mansour-Hendili L,Blanchard A,Le PN,et al.Mutation update of the CLCN5 gene responsible for dent disease 1[J].Human Mutation,2015,36(8):743-752.
[28] Levin-Iaina N,Dinour D.Renal disease with OCRL1 mutations:dent-2 or lowe syndrome[J].J Pediatr Genet,2012,1:3-5.
[29] Bockenhauer D,Bokenkamp A,Nuutinen M,et al.Novel OCRL mutations in patients with Dent-2 disease[J].J Pediatr Genet,2012,1:15-23.
[30] Devuyst O,Thakker RV.Dent′s disease[J].Orphanet journal of rare diseases,2010,5(1):28.
[31] Hernández-Frías O,Gil-Peña H,Pérez-Roldán JM,et al.Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia[J].Pediatr Nephrol,2019,34:1077. |
