X-linked vitamin D-resistant rickets: 12 years of follow-up

被引：3

作者：

Guerboub, Ahmed Anas ^{[1
]}

Moussaoui, Souad ^{[1
]}

Issouani, Jad ^{[1
]}

Errahali, Yassine ^{[1
]}

Belmejdoub, Ghizlaine ^{[1
]}

机构：

[1] Mohammed V Mil Hosp, Endocrinol Diabetol & Metab Dis Dept, Rabat, Morocco

来源：

PAN AFRICAN MEDICAL JOURNAL | 2018年 / 30卷

关键词：

X-linked hypophosphatemic rickets; PHEX; fractures and deformities;

D O I：

10.11604/pamj.2018.30.9.14762

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

1004 ; 120402 ;

摘要：

Rickets are abnormalities of mineralization that can lead to bone fractures and deformities. Vitamin-resistant rickets is defined as any rickets not prevented by regular, early and prolonged administration of vitamin D and not cured by a sufficient total dose. The aim of our work is to describe the clinical, paraclinical and therapeutic aspects of X-linked hypophosphatemic rickets (XLHR), which is the most common cause of hereditary rickets and on the other hand to highlight the interest not only of the early care but also the regular long-term monitoring of these children.

引用

页数：5

共 14 条

[1]

Albright F, 1937, AM J DIS CHILD, V54, P529

[2]

[Anonymous], 2012, REV RHUMATISME MONOG, V79, P262

[3] Anti-FGF-23 Neutralizing Antibodies Ameliorate Muscle Weakness and Decreased Spontaneous Movement of Hyp Mice [J].

Aono, Yukiko ;

Hasegawa, Hisashi ;

Yamazaki, Yuji ;

Shimada, Takashi ;

Fujita, Toshiro ;

Yamashita, Takeyoshi ;

Fukumoto, Seiji .

JOURNAL OF BONE AND MINERAL RESEARCH, 2011, 26 (04) :803-810

[4] LINEAR GROWTH IN PATIENTS WITH HYPOPHOSPHATEMIC VITAMIN-D RESISTANT RICKETS - INFLUENCE OF TREATMENT REGIMEN AND PARENTAL HEIGHT [J].

BALSAN, S ;

TIEDER, M .

JOURNAL OF PEDIATRICS, 1990, 116 (03) :365-371

[5] New perspectives on the biology and treatment of X-linked hypophosphatemic rickets [J].

Carpenter, TO .

PEDIATRIC CLINICS OF NORTH AMERICA, 1997, 44 (02) :443-+

[6] ORIGIN, DIAGNOSIS, AND TREATMENT OF DENTAL MANIFESTATIONS OF VITAMIN-D-RESISTANT RICKETS - REVIEW OF LITERATURE AND REPORT OF CASE [J].

COHEN, S ;

BECKER, GL .

JOURNAL OF THE AMERICAN DENTAL ASSOCIATION, 1976, 92 (01) :120-129

[7] A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTS WITH X-LINKED HYPOPHOSPHATEMIC RICKETS [J].

FRANCIS, F ;

HENNIG, S ;

KORN, B ;

REINHARDT, R ;

DEJONG, P ;

POUSTKA, A ;

LEHRACH, H ;

ROWE, PSN ;

GOULDING, JN ;

SUMMERFIELD, T ;

MOUNTFORD, R ;

READ, AP ;

POPOWSKA, E ;

PRONICKA, E ;

DAVIES, KE ;

ORIORDAN, JLH ;

ECONS, MJ ;

NESBITT, T ;

DREZNER, MK ;

OUDET, C ;

PANNETIER, S ;

HANAUER, A ;

STROM, TM ;

MEINDL, A ;

LORENZ, B ;

CAGNOLI, M ;

MOHNIKE, KL ;

MURKEN, J ;

MEITINGER, T .

NATURE GENETICS, 1995, 11 (02) :130-136

[8] EFFECTS OF CALCITRIOL AND PHOSPHORUS THERAPY ON THE GROWTH OF PATIENTS WITH X-LINKED HYPOPHOSPHATEMIA [J].

FRIEDMAN, NE ;

LOBAUGH, B ;

DREZNER, MK .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1993, 76 (04) :839-844

[9] BIOCHEMICAL AND DNA MARKERS OF X-LINKED HYPOPHOSPHATEMIC RICKETS - A STUDY OF SPORADIC CASES [J].

PRONICKA, E ;

POPOWSKA, E ;

ROWINSKA, E ;

PIEKUTOWSKA, D ;

OGLECKA, M ;

KRAJEWSKAWALASEK, M .

JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (03) :335-338

[10]

Rasmussen H, 1994, MENDELIAN HYPOPHOSPH

← 1 2 →