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During the years after diagnosis, all of these had episodes of rickets identified on clinical or radiological examination, and a male and two of the females had persisting skeletal axis deviations at the last registered consultation. Overall, nine females and four males had persisting axis deviation at the last registered consultation, and correcting osteotomy had been performed in one female and two males. The prevalence of dental involvement was higher in male than female XLHR patients, and in children who started treatment after the age of 1 year Table 2.

There were no differences between the mutation status groups in growth, dental involvement, persistent bowing, or development of nephrocalcinosis results not shown. The median age at the start of treatment was 2. Twenty-six of the 28 patients were treated with oral phosphate and vitamin D alfacalcidol supplements Table 1.

Phosphate Regulating Endopeptidase Homolog X-Linked

Two patients were diagnosed at the time of inclusion, and had not started any treatment at that point. Details of medical treatment were available for 19 of the 21 XLHR patients. In this group, the median age at the start of treatment with oral phosphate and alfacalcidol was 1. The median time in treatment for patients without registered nephrocalcinosis was 7 years 2 months range 0—14 years 7 months. All nine XLHR patients who developed nephrocalcinosis did so within 5 years of treatment. Of the 11 patients without nephrocalcinosis, only four had been treated for 5 years or more, and were included in further comparisons.

Moreover, there was a tendency for earlier start of treatment in children who developed nephrocalcinosis compared with children that did not median 0. Furthermore, the groups did not differ with respect to the occurrence of skeletal symptoms at diagnosis, dental involvement at diagnosis, persistent bowing at the last registered consultation, or delta height z -score not shown. The horizontal lines represent the median in each group. Information concerning parathyroid state was available in 18 patients, of whom 16 had elevated levels of total intact PTH at the time of diagnosis Table 1 and Supplementary Table 2a.

All patients developed transient HPT during treatment in the face of normocalcemia. As seen in Fig. She had been treated with phosphate and alfacalcidol from the age of 5 months, and during the Treatment with calcimimetics was started, and she has avoided the need of parathyroidectomy Nephrocalcinosis was diagnosed in one female patient with no detected mutation in any of the known genes at age 8 years 2 months after 6 years 4 months of treatment with phosphate and alfacalcidol.

Nephrocalcinosis was also demonstrated in the male patient with HHRH, before start of treatment. Tertiary HPT was found in one female patient with no established mutations in any of the known genes. She had been treated for 14 years, with an average dose of elemental phosphorus of The patient has responded well to treatment with a calcimimetic, and has so far not needed parathyroidectomy. We have presented the first national cohort of HH and XLHR in children, describing the prevalence, genotypes, phenotypic spectrum, and response to and complications of treatment in the Norwegian pediatric population.

Studies of large pedigrees of XLHR patients have reported a low penetrance of skeletal manifestations in hypophosphatemic female family members, whereas all hypophosphatemic males had skeletal manifestations of disease Hence, there is a possibility of undiagnosed XLHR in Norwegian females from pedigrees without affected males.

PHEX Gene - GeneCards | PHEX Protein | PHEX Antibody

However, the ratio of female to male patients in our cohort was , as compared to the expected ratio of for X-linked dominant disorders; a large proportion of undiagnosed females thus seems unlikely. Since our study included only children already in contact with health care and asymptomatic members of the pedigrees were not tested for hypophosphatemia, we cannot rule out hypophosphatemic second-degree relatives We have previously reported two male siblings with the first identified association between compound heterozygous mutations in FA M20C and FGF23 dependent hypophosphatemia in humans In four patients we did not find the likely disease causing mutation.

However, as illustrated by our finding of FAM20C mutations 11 , there are possibilities of mutations in other genes associated with pathways involving FGF23, phosphate reabsorption, and tissue mineralization. One adolescent male was compound heterozygous for mutations in the SLC34A3 gene.

He had no manifestations of rickets, normal growth and bone mineral density, and came to medical attention because of recurrent kidney stones, accompanied by hypercalcuria, hypophosphatemia, suppressed PTH, and high 1,25 OH 2 D.


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He had a novel splicing mutation c. When comparing non-sense PHEX mutations with missense PHEX mutations likely to reduce protein function, we did not find differences in growth, severity of skeletal or dental disease, or in the prevalence of treatment complications based on the type of mutation. Our findings confirm the results of another recent study 21 , whereas other studies have suggested an association between truncating mutations and a more severe skeletal phenotype 32 , 33 , However, even in subjects with the same genotype, the skeletal phenotype seems to be very variable and individual 35 , This might reflect influence from other genetic variants in mineralization and phosphate metabolism.

Interestingly, it was recently reported that patients homozygous or heterozygous for the FGF23 sequence variant c. CT p.


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  • Another research group have reported a weak, but significant association between the c. In none of the studies, it was possible to show significantly higher levels of serum iFGF23 in subjects carrying the c. CT variant. Evaluation of phenotype in XLHR showed that growth was compromised, and there was a tendency for lower height z -scores in males than females.

    Also, we found a trend for males having a higher proportion of skeletal and dental manifestations than females. As discussed above, some studies points to a milder phenotype in females, with slight hypophosphatemia and mild or no overt skeletal disease 39 , There are also reports of slightly lower serum levels of phosphate 40 , 41 and more severe skeletal disease in male than female XLHR patients Other studies have reported no gender differences in skeletal phenotype 35 , 43 , but more severe dental phenotype in post pubertal males than females 35 , Thus, our findings support the notion of a more severe mineralization defect in males than females.

    Nervous system 4. Germ Layers: ectoderm endoderm mesoderm. Systems: cardiovascular digestive endocrine immune nervous respiratory skeletal muscle skeleton urinary.

    Hypophosphatemic Rickets

    Regions: Head and neck: brain ear face forehead head jaw mandible maxilla mouth neck parathyroid skull thyroid tooth. Thorax: chest wall clavicle diaphragm heart rib rib cage scapula sternum. Abdomen: biliary tract kidney liver. Pelvis: pelvis. Limb: ankle arm digit elbow femur fibula finger foot forearm hand hip humerus knee lower limb radius shin shoulder thigh tibia toe ulna upper limb wrist.

    Hyperphosphatemia - causes, symptoms, diagnosis, treatment, pathology

    General: blood red blood cell spinal column spinal cord vertebrae white blood cell. Genes that share expression patterns with PHEX: view.


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    This gene was present in the common ancestor of animals. Genes that share paralogs with PHEX: view. Residual Variation Intolerance Score : 8. Gene Damage Index Score : 1. Hypophosphatemic rickets, X-linked dominant XLHR [MIM]: A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules.

    Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in Genes that share disorders with PHEX: view.

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