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Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors.

ABSTRACT: Context:Nephrocalcinosis (NC) and nephrolithiasis (NL) are described in hypophosphatemic rickets, but data regarding their prevalence rates and the presence of metabolic risk factors in X-linked hypophosphatemic rickets (XLH) are scarce. Objective:To determine the prevalence rates of NC and NL and their risk factors in patients with XLH with confirmed PHEX mutations. Methods:Renal ultrasonography (US) and CT were performed in 16 children and 23 adults. The images were evaluated by two blinded radiologists specializing in US and two specializing in CT. Confirmation of NC was determined with a positive result on both US and CT, whereas the diagnosis of NL was confirmed by CT alone. The presence of hypercalciuria, hypocitraturia, and hyperoxaluria was determined from 24-hour urinary samples from each patient. The glomerular filtration rate was estimated. Results:NC was identified in 15 patients (38.4%), and stratification by age group showed a higher prevalence of NC in children than in adults (56.2% vs 26.1%). CT identified NL in four adults (10.2%). Patients in the pediatric group required intensive use of phosphate, started treatment earlier, and presented greater phosphaturia than those in the adult group (P < 0.01). In addition to hyperphosphaturia, which was present in all patients with XLH, hypocitraturia was the most common metabolic factor (28.2%), whereas hypercalciuria occurred in two patients (5.1%). None had hyperoxaluria. Most patients had normal renal function. Conclusions:NC was more prevalent than NL. The main metabolic factor was hyperphosphaturia, and intensive phosphate treatment appears to be a worsening factor for kidney calcification.

SUBMITTER: Colares Neto GP

PROVIDER: S-EPMC6497922 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Publications

Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors.

Colares Neto Guido de Paula GP Ide Yamauchi Fernando F Hueb Baroni Ronaldo R de Andrade Bianchi Marco M Cavalanti Gomes Andrea A Chammas Maria Cristina MC Matsunaga Martin Regina R

Journal of the Endocrine Society 20190325 5

<h4>Context</h4>Nephrocalcinosis (NC) and nephrolithiasis (NL) are described in hypophosphatemic rickets, but data regarding their prevalence rates and the presence of metabolic risk factors in X-linked hypophosphatemic rickets (XLH) are scarce.<h4>Objective</h4>To determine the prevalence rates of NC and NL and their risk factors in patients with XLH with confirmed <i>PHEX</i> mutations.<h4>Methods</h4>Renal ultrasonography (US) and CT were performed in 16 children and 23 adults. The images wer ...[more]

PMID: 31065622

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Project description:X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. It is caused by an impaired regulation of fibroblast growth factor 23 (FGF23) due to a PHEX gene mutation, which leads to reduced tubular reabsorption of phosphate and renal 1α-hydroxylase activity and increased renal 24-hydroxylase activity. Hypophosphatemia associated with renal phosphate wasting, normal serum levels of calcium, parathyroid hormone, and 25-hydroxyvitamin D represents the main biochemical sign in affected patients. Patients with XLH show rickets and osteomalacia, severe deformities of the lower limbs, bone and muscular pain, stunted growth, and reduced quality of life. However, XLH is a multisystemic disorder requiring multidisciplinary approaches in specialized subdisciplines. Severe complications may occur in patients with XLH including craniosynostosis, hearing loss, progressive bone deformities, dental and periodontal recurrent lesions, and psychosocial distress. Moreover, long-term conventional treatment with active vitamin D metabolites and oral inorganic phosphate salts may cause endocrinological complications such as secondary or tertiary hyperparathyroidism, and adverse events in kidney as hypercalciuria, nephrocalcinosis, and nephrolithiasis. However, conventional treatment does not improve phosphate metabolism and it shows poor and slow effects in improving rickets lesions and linear growth. Recently, some trials of treatment with recombinant human IgG1 monoclonal antibody that targets FGF23 (burosumab) showed significant improvement of serum phosphate concentration and renal tubular reabsorption of phosphate that were associated with a rapid healing of radiologic signs of rickets, reduced muscular and osteoarticular pain, and improved physical function, being more effective for the treatment of patients with XLH in comparison with conventional therapy. Therefore, a global management of patients with XLH is strongly recommended and patients should be seen regularly by a multidisciplinary team of experts.

Dataset Information

Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors.

Publications

Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors.

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