Unilateral renal agenesis. New arguments about the genetic relationship between kidney malformations and urolithiasis

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

doi:10.1016/j.anpede.2015.09.025

Cited by 2 publications

(1 citation statement)

References 33 publications

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“…Metabolism and morphology cause urolithiasis 5,7 . Children commonly have metabolic and genitourinary abnormalities 2,3,11 . Most children with renal stones have metabolic issues 7,12 .…”

Section: Introductionmentioning

confidence: 99%

Frequency of Different Metoboloic Abnormalities in Paediatric Age Group with Renal Stone Diseases

Wang¹,

Nawaz²,

Sultan³

2023

PJMHS

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Introduction: Up to 15% of children under the age of 15 may have paediatric urolithiasis, which is linked with severe morbidity and high recurrence rates. This condition is still a serious urological concern. In 86% to 96.1% of kids with kidney stone disorders, metabolic abnormalities are one of the most frequent causes of urolithiasis. Hypercalciuria, hyperoxaluria, hyperuricosurea, and hypocitraturea are the most prevalent metabolic disorders. In order to treat and prevent renal stones in children with renal stone disorders, it is crucial to identify several metabolic abnormalities. Materials and Methods: Descriptive Cross-Sectional Study at the IKD, HMC, Urology Department. This research covered paediatric patients with urolithiasis under the age of 15 years. All patients with urolithiasis had a 24-hour urine assay for metabolic abnormalities on their first visit. Results: 119 individuals, or 72.12%, of the total 165 patients, exhibited metabolic disorders. Out of 119 patients, hypercalciurea affected 56 patients (47.05%), hypocitraturea affected 31 patients (26.05%), hyperoxalurea affected 18 patients (15.12%), and hyperuricosurea affected 14 patients (11.65%). 41 patients, or 34.45% of the 119 total patients, were female youngsters, making up 78 patients (65.54%). The most frequent findings were hypocitraturea and hypercalciuria. Conclusion: Urolithiasis in children is often brought on by metabolic disorders, which are curable and avoidable. In order to detect, treat, and prevent urolithiasis recurrence as well as morbidities brought on by urolithiasis in paediatric patients, it is advised that all paediatric patients presenting with urolithiasis for the first time undergo extensive investigation. Keywords: Metabolic Abnormalities, Recurrent Renal Stones, Urolithiasis

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“…Metabolism and morphology cause urolithiasis 5,7 . Children commonly have metabolic and genitourinary abnormalities 2,3,11 . Most children with renal stones have metabolic issues 7,12 .…”

Section: Introductionmentioning

confidence: 99%

Frequency of Different Metoboloic Abnormalities in Paediatric Age Group with Renal Stone Diseases

Wang¹,

Nawaz²,

Sultan³

2023

PJMHS

View full text Add to dashboard Cite

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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

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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.

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Unilateral renal agenesis. New arguments about the genetic relationship between kidney malformations and urolithiasis

Cited by 2 publications

References 33 publications

Frequency of Different Metoboloic Abnormalities in Paediatric Age Group with Renal Stone Diseases

Frequency of Different Metoboloic Abnormalities in Paediatric Age Group with Renal Stone Diseases

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

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