Agenesia renal unilateral. Nuevos argumentos acerca de la relación genética entre la urolitiasis y las malformaciones renales

Nieto, Víctor Manuel García; Díaz, Beatriz Huertes; Escribano, Joaquín; Alacio, María Teresa Alarcón; Rodriguez, John; Sevilla, José Eugenio Cabrera; Aros, Carolina Peralta; Yanes, María I. Luis

doi:10.1016/j.anpedi.2015.09.023

Cited by 2 publications

(3 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, 32 studies were excluded because they were review articles or animal studies. Eventually, a total of 41 studies were included in this meta‐analysis 18–57 . According to the PRISMA guidelines, an overall data collection process is presented in Figure 1.…”

Section: Resultsmentioning

confidence: 99%

“…The results of a total of 5 studies were evaluated in this category 36,40,52,56,57 . Blood in the urine was found to occur in 39.94% (95% CI: 0.00%–100.00%) of the patients.…”

Section: Resultsmentioning

confidence: 99%

“…The results of a total of 20 studies were evaluated in this category. 18,[20][21][22]24,[26][27][28][32][33][34][35]37,40,43,52,[54][55][56][57] Left RA was found in 51.56% (95% CI: 44.79%-58.31%) out of a total of 1182 subjects and right RA had a prevalence of 43.19% (95% CI: 36.65%-49.84%) in 1182 patients. More information is provided in Table 5.…”

Section: Occurrence Of the Ra Sidementioning

confidence: 99%

See 2 more Smart Citations

Renal agenesis: A meta‐analysis of its prevalence and clinical characteristics based on 15 641 184 patients

et al. 2023

View full text Add to dashboard Cite

Our objective was to analyse the newest relevant data on worldwide prevalence and associated symptoms of renal agenesis (RA). This meta‐analysis builds on previous systematic reviews to include bilateral RA, its symptoms and data on gender, unilateral RA and anomaly location prevalence. Review of available data included records in English and other languages from PubMed, Embase, ScienceDirect, Web of Science, SciELO, BIOSIS, Current Content Connect Korean Journal Database and Russian Citation Index and Google. A total of 15 641 184 patients were analysed in relation to the prevalence of RA. The pooled prevalence of RA was 0.03% (95% CI: 0.03%–0.04%). Based on 500 subjects, a pooled prevalence of 47.96% (95% CI: 31.55%–64.58%) for unilateral and 52.04% (95% CI: 35.42%–68.45%) for bilateral RA has been set. Our study presents the newest generalized findings on bilateral RA. There appears to be universal disease and symptom prevalence with minor differences between world regions, although quality of future observational research should include genomic data. This will provide even further insight into the prognosis of various renal anomalies and their etiologies.

show abstract

Section: Resultsmentioning

confidence: 99%

“…The results of a total of 5 studies were evaluated in this category 36,40,52,56,57 . Blood in the urine was found to occur in 39.94% (95% CI: 0.00%–100.00%) of the patients.…”

Section: Resultsmentioning

confidence: 99%

Section: Occurrence Of the Ra Sidementioning

confidence: 99%

See 1 more Smart Citation

Renal agenesis: A meta‐analysis of its prevalence and clinical characteristics based on 15 641 184 patients

et al. 2023

View full text Add to dashboard Cite

show abstract

Hypophosphatemic osteomalacia in neurofibromatosis 1 associated with intracranial gliomas and congenital renal agenesis: A rare case report and review of the literature

Kaspiris¹,

Vasiliadis²,

Melissaridou³

et al. 2022

JOCR

View full text Add to dashboard Cite

Introduction:Neurofibromatosis Type 1 (Nf1), also termed von Recklinghausen disease, is a rare autosomal dominant genetic disorder accompanied by several osseous and skeletal manifestations. In NF, hypophosphatemia linked to secondary hyperparathyroidism due to Vitamin D deficiency and low calcium intake has been reported as a risk factor for low bone mass density (BMD), but reports of NF1 associated oncogenic hypophosphatemic osteomalacia (HO) are extremely rare. Case Report: We report a patient with NF1 associated with intracranial low-grade gliomas and congenital renal agenesis suffering from HO. Bone defects and deformities such as generalized bone pains located in feet, ankles and lower limbs, thoracic scoliosis, mild bowing of long bones of lower limbs, stress fractures, and old fractures as well as with altered bone metabolic serum markers were present. After 8 weeks of follow-up, it was observed that the combination of oral administration of phosphate and Vitamin D improved her medical symptoms without significant changes in phosphate levels or BMD. Conclusion: Although renal agenesis is not correlated with hypophosphatemia, the coexistence of NF1, renal congenital deformities, and low-grade gliomas may contribute to disease severity. Conventional treatment with high doses of oral calcitriol associated with phosphate is efficient to improve the clinical and laboratory symptoms of the disease. Keywords: Bone pains, scoliosis, bone mass density, stress fractures, vitamin D.

show abstract

Agenesia renal unilateral. Nuevos argumentos acerca de la relación genética entre la urolitiasis y las malformaciones renales

Abstract: Our results show that the prevalence of hypercalciuria and/or hypocitraturia is greater in pediatric patients with URA than in the general population. Likewise, the prevalence of urolithiasis in the families of these children is also higher than that in the general population.

Cited by 2 publications

References 31 publications

Renal agenesis: A meta‐analysis of its prevalence and clinical characteristics based on 15 641 184 patients

Renal agenesis: A meta‐analysis of its prevalence and clinical characteristics based on 15 641 184 patients

Hypophosphatemic osteomalacia in neurofibromatosis 1 associated with intracranial gliomas and congenital renal agenesis: A rare case report and review of the literature

Contact Info

Product

Resources

About