hypophosphatemic rickets
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2022 ◽  
Vol 7 ◽  
pp. 100131
Author(s):  
Jancy Andrea Huertas-Quintero ◽  
Natalia Losada-Trujillo ◽  
Diego Alberto Cuellar-Ortiz ◽  
Harvy Mauricio Velasco-Parra

2022 ◽  
Vol 23 (2) ◽  
pp. 934
Author(s):  
Rocío Fuente ◽  
María García-Bengoa ◽  
Ángela Fernández-Iglesias ◽  
Helena Gil-Peña ◽  
Fernando Santos ◽  
...  

X-linked hypophosphatemia (XLH), the most common form of hereditary hypophosphatemic rickets, is caused by inactivating mutations of the phosphate-regulating endopeptidase gene (PHEX). XLH is mainly characterized by short stature, bone deformities and rickets, while in hypophosphatemia, normal or low vitamin D levels and low renal phosphate reabsorption are the principal biochemical aspects. The cause of growth impairment in patients with XLH is not completely understood yet, thus making the study of the growth plate (GP) alterations necessary. New treatment strategies targeting FGF23 have shown promising results in normalizing the growth velocity and improving the skeletal effects of XLH patients. However, further studies are necessary to evaluate how this treatment affects the GP as well as its long-term effects and the impact on adult height.


Cells ◽  
2022 ◽  
Vol 11 (1) ◽  
pp. 170
Author(s):  
Dieter Haffner ◽  
Maren Leifheit-Nestler ◽  
Candide Alioli ◽  
Justine Bacchetta

Cystinosis Metabolic Bone Disease (CMBD) has emerged during the last decade as a well-recognized, long-term complication in patients suffering from infantile nephropathic cystinosis (INC), resulting in significant morbidity and impaired quality of life in teenagers and adults with INC. Its underlying pathophysiology is complex and multifactorial, associating complementary, albeit distinct entities, in addition to ordinary mineral and bone disorders observed in other types of chronic kidney disease. Amongst these long-term consequences are renal Fanconi syndrome, hypophosphatemic rickets, malnutrition, hormonal abnormalities, muscular impairment, and intrinsic cellular bone defects in bone cells, due to CTNS mutations. Recent research data in the field have demonstrated abnormal mineral regulation, intrinsic bone defects, cysteamine toxicity, muscle wasting and, likely interleukin-1-driven inflammation in the setting of CMBD. Here we summarize these new pathophysiological deregulations and discuss the crucial interplay between bone and muscle in INC. In future, vitamin D and/or biotherapies targeting the IL1β pathway may improve muscle wasting and subsequently CMBD, but this remains to be proven.


Author(s):  
Aurore Bonnet-Lebrun ◽  
Agnès Linglart ◽  
Marine De Tienda ◽  
Younes Ouchrif ◽  
Jugurtha Berkenou ◽  
...  

Author(s):  
Yuichi Takashi ◽  
Daiji Kawanami ◽  
Seiji Fukumoto

Author(s):  
Stephanie Christensen ◽  
Peter J. Tebben ◽  
David Sas ◽  
Ana L. Creo

Introduction: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) is a rare condition of renal phosphate wasting due to SLC34A3 mutations [1]. Patients exhibit low serum phosphorus, high 1,25-dihydroxyvitamin D and inappropriately high urine phosphate and calcium. However, symptoms vary and little is known about specific phenotype-genotype correlations. Methods: We report three HHRH cases in unrelated 12-year-old, 9-year-old and 14-year-old patients and perform a systematic literature review. Results: All three patients exhibited labs typical of HHRH. Yet, their presentations differed and 2 novel SLC34A3 variants were identified. As found in the literature review, bone symptoms are most common (50%), followed by renal symptoms (17%), combined bone and renal symptoms (18%) and asymptomatic (9%). Conclusion: These three cases highlight the variability of presenting signs and symptoms among individuals with HHRH. An accurate diagnosis is critical, as treatment differs from other disorders of phosphate wasting, urinary stones, and mineralization defects.


Agriculture ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 955
Author(s):  
Lei Xu ◽  
Lin Li ◽  
Yuhua Z. Farnell ◽  
Xiaoli Wan ◽  
Haiming Yang ◽  
...  

Recently, a P-deficient diet caused rickets in commercial chicks within three days. This study aimed to investigate the duration of onset of rickets in chicks. Data were collected from 3–11 day old chicks raised on 88 commercial farms. Male day-old Arbor Acres Plus broilers (n = 450) were studied in three trials, with three to four treatments each. Each treatment used one of the following crumbled feeds: control feed (calcium (Ca): phosphorus (P)-1.41), slightly high Ca:P feed (SHCa:P, Ca:P-2.69), high Ca:P ratio, P deficient feed (HCa:P, Ca:P-3.08), and HCa:P feed plus 1.5% dicalcium phosphate (HCa:P + DP). Each treatment had three replicates with 15 birds each. Rickets was induced by HCa:P, and cured by HCa:P + DP, confirmed by gross anatomy, gait score, serum P concentration and growth performance. Lameness was not found in control groups, whereas, observed in the HCa:P groups as early as day 2.7 on commercial farms and day 3 in experimental farm. Serum P was reduced in HCa:P (p < 0.01). Bodyweight and feed intake started decreasing at day 3 on commercial farms and in all trials (p < 0.01). The duration of onset of hypophosphatemic rickets in broiler chicks fed HCa:P crumbled feed is approximately three days.


Author(s):  
Daniela Cavaco ◽  
Pedro Amaro ◽  
Joana Simões-Pereira ◽  
Maria Conceição Pereira

Abstract X-linked hypophosphatemic rickets (XLH) is a rare disease caused by a mutation in the PHEX gene, located on the X chromosome. This gene encodes the phosphate regulating endopeptidase, and its inactivation leads to increased levels of circulating phosphatonins responsible for renal phosphate loss. The treatment of XLH is still carried out with long-term administration of phosphate and calcitriol, which can be complicated by hyperparathyroidism, nephrocalcinosis, renal failure and hypertension. We describe the case of a four-decades follow-up patient with XLH. When she was diagnosed, at 19, due to bone pain and deformities, she was put on therapy with phosphorus and cholecalciferol. Despite the clinical improvement, serum phosphorus remained difficult to control. At the age of 44, she developed tertiary hyperparathyroidism and was submitted to parathyroidectomy. Five years later, parathyroid hyperfunction recurred. This time, cinacalcet was started, 30 mg alternating with 60 mg/day. Currently, she is 59 years-old and remains with controlled mineral metabolism. The genetic study of this patient revealed a nonsense heterozygous mutation (c.501G&gt; A) in PHEX gene that was not previously described. In this case, the off-label use of cinacalcet resulted in the normalization of serum PTH and phosphorus levels, eliminated recurrent secondary hyperparathyroidism, which aggravates the bone fragility inherent to XLH and prevented a new parathyroidectomy. This report also adds important information to the genetic basis of XLH with the identification of a new nonsense mutation of the PHEX gene.


Author(s):  
Ayfer Alikasifoglu ◽  
Yagmur Unsal ◽  
Elmas Nazli Gonc ◽  
Zeynep Alev Ozon ◽  
Nurgun Kandemir ◽  
...  

Abstract Objectives Hereditary hypophosphatemic rickets (HR) is conventionally treated with phosphate and calcitriol. Exploring genotype and phenotypic spectrum of X-linked hypophosphatemic rickets (XLHR), focusing on short-term, long-term, and pubertal impact of conventional treatment was aimed. Methods Sixteen patients from 12 unrelated families with HR were analyzed for phosphate regulating endopeptidase homolog X-linked (PHEX) mutation. Initially Sanger sequencing analysis was performed. If PHEX mutation was not detected, multiplex ligation-dependent probe amplification (MLPA) was performed. If molecular defect was detected, first-degree relatives were analyzed. Thirteen patients (81%) and five first-degree relatives with XLHR were evaluated for genotype–phenotype or gender-phenotype correlation. Clinical characteristics and response to conventional treatment were determined retrospectively. Results Nine different PHEX mutations were identified; four splice-site, three point mutations, and two single exon deletions. Four were novel mutations. Despite conventional treatment, median adult height was lower than median height on admission (−3.8 and −2.3 SDS, respectively), metabolic and radiographic recovery were not achieved, adherence was low (30%). Although mean adult height was better in compliant patients than noncompliants (−2.6 vs. −3.7 SDS, respectively), they were still short. Correlation between phenotype and genotype or gender could not be shown. Median phosphate decreased significantly throughout puberty (p=0.014). Median pubertal height was lower than prepubertal height (−4.4 vs. −3.6 SDS; respectively), pubertal growth spurt was not observed. Among five patients with a follow-up longer than five years, three had nephrocalcinosis (60%), two had hyperparathyroidism (40%), 4/6 (33%) required correction osteotomy. Conclusions Conventional treatment appears to have limited effect on metabolic, clinical and radiographic recovery in XLHR. Metabolic control and growth worsened during puberty. Although, long-term adverse effects are yet to be seen, introduction of burosumab as first-line treatment may be an alternative after infancy.


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