Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23 gene in child from Russia

2018 ◽  
Vol 2 (1) ◽  
pp. 5-9
Author(s):  
Kristina S. Kulikova ◽  
Eugeny V. Vasiliev ◽  
Vasily M. Petrov ◽  
Anatoly N. Tiulpakov
Keyword(s):  
Alkaline Phosphatase Level ◽  
Autosomal Dominant ◽  
Age Of Onset ◽  
Fibroblast Growth Factor 23 ◽  
Clinical Manifestations ◽  
Hypophosphatemic Rickets ◽  
Incomplete Penetrance ◽  
Adult Onset ◽  
Hypophosphataemic Rickets ◽  
Autosomal Dominant Hypophosphatemic Rickets

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disorder characterized of renal phosphate wasting and rickets/osteomalacia. ADHR is caused by mutations in a circulating peptide, fibroblast growth factor 23 (FGF23). The clinical manifestations depend on the age of patients and the importance of hypophosphatemia. In childhood, clinical manifestations are rickets with lower extremity deformities. In adult onset, it can cause osteomalacia, osteoporosis, bone pain, tiredness. ADHR displays incomplete penetrance and variability in age of onset of clinical features. Biochemical and hormonal markers of the disease are hypophosphatemia, hyperphosphaturia, increased alkaline phosphatase level and a normal level of 1,25(OH) 2D. We present the first report a baby with ADHR from Russia which one was found heterozygous for the R179Q mutation in FGF23 gene.

scholarly journals Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Hala Mualla ◽  
Su Ah Bae ◽  
Abid Yaqub
Keyword(s):  
Autosomal Dominant ◽  
Fibroblast Growth Factor 23 ◽  
Missense Variant ◽  
Normal Serum ◽  
Hypophosphatemic Rickets ◽  
Pubic Bone ◽  
Hydroxyvitamin D ◽  
Autosomal Dominant Hypophosphatemic Rickets ◽  
Normal Serum Calcium ◽  
History Of

We describe a presentation of Autosomal Dominant Hypophosphatemic Rickets (ADHR) in a 22-year-old female with normal pubertal growth and development and a negative family history in first-degree relatives. The patient presented with a 2-year history of upper and lower extremity proximal muscle pain and weakness and bilateral femoral neck and pubic bone insufficiency fractures. She had a normal serum calcium but a low phosphate as well as 25-hydroxyvitamin D (25(OH)D) levels leading initially to a diagnosis of osteomalacia. Urine phosphate reabsorption was low confirming a phosphate wasting disorder. She had an elevated Fibroblast Growth Factor 23 (FGF23) level. After Tumor-Induced Osteomalacia was ruled out by extensive imaging, she was sent for genetic testing for hereditary rickets which showed a previously reported missense variant in FGF23. Subsequently, she found out that her father’s maternal aunt and grandfather had ‘bone disorder’ and were wheelchair-bound in adulthood. After replenishment of vitamin D, treatment with calcitriol and phosphate leads to complete resolution of patient’s symptoms and laboratory abnormalities.

scholarly journals Iron Supplementation Associated With Loss of Phenotype in Autosomal Dominant Hypophosphatemic Rickets

2015 ◽  
Vol 100 (9) ◽  
pp. 3388-3392 ◽  
Author(s):  
Klaus Kapelari ◽  
Julia Köhle ◽  
Dieter Kotzot ◽  
Wolfgang Högler
Keyword(s):  
Iron Deficiency ◽  
Serum Iron ◽  
Iron Supplementation ◽  
Autosomal Dominant ◽  
Iron Status ◽  
Fibroblast Growth Factor 23 ◽  
Normal Serum ◽  
Hypophosphatemic Rickets ◽  
High Dose ◽  
Autosomal Dominant Hypophosphatemic Rickets

Context: Autosomal dominant hypophosphatemic rickets (ADHR) is the only hereditary disorder of renal phosphate wasting in which patients may regain the ability to conserve phosphate. Low iron status plays a role in the pathophysiology of ADHR. Objective: This study reports of a girl with ADHR, iron deficiency, and a paternal history of hypophosphatemic rickets that resolved without treatment. The girl's biochemical phenotype resolved with iron supplementation. Subjects: A 26-month-old girl presented with typical features of hypophosphatemic rickets, short stature (79 cm; −2.82 SDS), and iron deficiency. Treatment with elemental phosphorus and calcitriol improved her biochemical profile and resolved the rickets. The girl's father had presented with rickets at age 11 months but never received medication. His final height was reduced (154.3 cm; −3.51 SDS), he had undergone corrective leg surgery and had an adult normal phosphate, fibroblast growth factor 23, and iron status. Father and daughter were found to have a heterozygous mutation in exon 3 of the FGF23 gene (c.536G>A, p.Arg179Gln), confirming ADHR. Intervention: Withdrawal of rickets medication was attempted off and on iron supplementation. Results: Withdrawal of rickets medication in the girl was unsuccessful in the presence of low-normal serum iron levels at age 5.6 years but was later successful in the presence of high-normal serum iron levels following high-dose iron supplementation. Conclusions: We report an association between iron supplementation and a complete loss of biochemical ADHR phenotype, allowing withdrawal of rickets medication. Experience from this case suggests that reduction and withdrawal of rickets medication should be attempted only after iron status has been optimized.

scholarly journals Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature

2021 ◽  
Vol 18 (16) ◽  
pp. 8771
Author(s):  
Chiara Mameli ◽  
Arianna Sangiorgio ◽  
Valeria Colombo ◽  
Mirko Gambino ◽  
Luigina Spaccini ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Late Onset ◽  
Fibroblast Growth Factor 23 ◽  
Failure To Thrive ◽  
Spontaneous Remission ◽  
Hypophosphatemic Rickets ◽  
Autosomal Dominant Hypophosphatemic Rickets ◽  
Heterozygous Variant ◽  
Tubular Phosphate Reabsorption ◽  
Phosphate Salts

Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date. We describe the case of a 17-month-old girl who presented with severe failure to thrive (length: −4.08 standard deviation (SD), weight: −2.2 SD) and hypotonia. Hypophosphatemia, decreased tubular phosphate reabsorption (69%), and rachitic lesions were found. Genetic analysis showed the heterozygous variant c.536G>A (NM_020638.3:c.536G>A) in exon 3 of the FGF23 gene, leading to the diagnosis of ADHR. She was treated with phosphate salts and oral alfacalcidol. After 4 years of treatment, at 5 years of age, the patient’s ADHR resolved spontaneously. Considering the lack of knowledge regarding ADHR, we reviewed the literature to describe the features of this rare and poorly understood disease. Eleven ADHR pediatric cases have been described thus far, with cases tending to be more common in females than males. Similar to the general population, two groups of patients with ADHR can be described depending on the mutations present: patients with an R179 and R176 mutation have early-onset of disease and higher frequency of rickets, and a milder and late-onset of disease, respectively. Symptoms and disease severity may fluctuate. Spontaneous remission may occur during the pediatric age.

Late onset autosomal dominant hypophosphatemic rickets; confirmation of the diagnosis with genomic analysis

2013 ◽  
Author(s):  
Symeon Tournis ◽  
Ioannis Stathopoulos ◽  
Kalliopi Lampropoulou-Adamidou ◽  
Theodora Koromila ◽  
Nikolaos Chatzistamatas ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Late Onset ◽  
Genomic Analysis ◽  
Hypophosphatemic Rickets ◽  
Autosomal Dominant Hypophosphatemic Rickets
Sign in / Sign up

Export Citation Format

Share Document