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Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors.
Tasic V, Gucev Z. Tasic V, et al. Pediatr Endocrinol Rev. 2015 Sep;13(1):468-76. Pediatr Endocrinol Rev. 2015. PMID: 26540764 Review.
Herein we will review clinical, biochemical, metabolic and genetic characteristics of the inherited diseases which lead to nephrolithiasis/nephrocalcinosis, such as: idiopathic hypercalciuria, renal hypophosphatemia, renal tubular acidosis, idiopathic infantile hype …
Herein we will review clinical, biochemical, metabolic and genetic characteristics of the inherited diseases which lead to nephrolithiasis/n …
Elevated morbidity and mortality in patients with chronic idiopathic hypophosphatemia: a nationwide cohort study.
Kim KJ, Song JE, Kim JH, Hong N, Kim SG, Lee J, Rhee Y. Kim KJ, et al. Front Endocrinol (Lausanne). 2023 Aug 10;14:1229750. doi: 10.3389/fendo.2023.1229750. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37635983 Free PMC article.
After excluding secondary conditions that could change serum phosphorus levels, we identified 154 patients (76 men and 78 women) with non-secondary and non-renal hypophosphatemia. These hypophosphatemic patients were compared at a ratio of 1:10 with age-, sex-, and …
After excluding secondary conditions that could change serum phosphorus levels, we identified 154 patients (76 men and 78 women) with non-se …
Reflections on TRP and TP/GFR in the definition of renal phosphate loss: conceptual review.
García-Nieto VM, González-Rodríguez JD, Cabrera-Sevilla JE, Martín-Fernández de Basoa MC, Luis-Yanes MI. García-Nieto VM, et al. Pediatr Nephrol. 2023 Nov;38(11):3845-3848. doi: 10.1007/s00467-023-05941-x. Epub 2023 Apr 13. Pediatr Nephrol. 2023. PMID: 37052691 Review.
CONCLUSIONS: TRP and TP/GFR are similar parameters. TRP is more effective than TP/GFR given that in renal hypophosphatemia it is always below 95% and above 95% in reduced phosphatemia and normal kidney proximal tubular function. ...
CONCLUSIONS: TRP and TP/GFR are similar parameters. TRP is more effective than TP/GFR given that in renal hypophosphatemia it …
Yield of diagnostic tests in unexplained renal hypophosphatemia: a case series.
Bech AP, Hoorn EJ, Zietse R, Wetzels JFM, Nijenhuis T. Bech AP, et al. BMC Nephrol. 2018 Sep 4;19(1):220. doi: 10.1186/s12882-018-1017-z. BMC Nephrol. 2018. PMID: 30180816 Free PMC article.
BACKGROUND: Isolated renal hypophosphatemia may be inherited or acquired. An increasing number of patients with unexplained renal hypophosphatemia is being referred to our clinics, but the optimal diagnostic work-up is not known. ...CONCLUSIONS: Oral c …
BACKGROUND: Isolated renal hypophosphatemia may be inherited or acquired. An increasing number of patients with unexplained …
Approach to the hypophosphatemic patient.
Imel EA, Econs MJ. Imel EA, et al. J Clin Endocrinol Metab. 2012 Mar;97(3):696-706. doi: 10.1210/jc.2011-1319. J Clin Endocrinol Metab. 2012. PMID: 22392950 Free PMC article.
Three primary mechanisms of hypophosphatemia exist: increased renal excretion, decreased intestinal absorption, and shifts from the extracellular to intracellular compartments. Renal hypophosphatemia can be further divided into fibroblast growth factor 23-mediated o …
Three primary mechanisms of hypophosphatemia exist: increased renal excretion, decreased intestinal absorption, and shifts from the extracel …
Genetic profile of a large Spanish cohort with hypercalcemia.
García-Castaño A, Madariaga L, Gómez-Conde S, González P, Grau G, Rica I, de Nanclares GP, De la Hoz AB, Aguayo A, Martínez R, Urrutia I, Gaztambide S; Calcium Phosphorus Metabolism Molecular Biology Group; Castaño L. García-Castaño A, et al. Front Endocrinol (Lausanne). 2024 Mar 22;15:1297614. doi: 10.3389/fendo.2024.1297614. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38586466 Free PMC article.
However, we also found variants in genes associated with primary hyperparathyroidism (GCM2), renal hypophosphatemia with or without rickets (SLC34A1, SLC34A3, SLC9A3R1, VDR, and CYP27B1), DiGeorge syndrome (TBX1 and NEBL), and hypophosphatasia (ALPL). ...
However, we also found variants in genes associated with primary hyperparathyroidism (GCM2), renal hypophosphatemia with or wi …
Impact of protease inhibitors on the evolution of urinary markers: Subanalyses from an observational cross-sectional study.
Bonjoch A, Puig J, Pérez-Alvarez N, Juega J, Echeverría P, Clotet B, Romero R, Bonet J, Negredo E. Bonjoch A, et al. Medicine (Baltimore). 2016 Aug;95(32):e4507. doi: 10.1097/MD.0000000000004507. Medicine (Baltimore). 2016. PMID: 27512868 Free PMC article.
Kidney injury (defined as the presence of albuminuria, proteinuria, glycosuria [without hyperglycemia], hematuria, and/or renal hypophosphatemia) is an emerging problem in human immunodeficiency virus (HIV)-infected patients, although few data are available on the r …
Kidney injury (defined as the presence of albuminuria, proteinuria, glycosuria [without hyperglycemia], hematuria, and/or renal hy …
Nonacidotic proximal tubulopathy transmitted as autosomal dominant trait.
Vezzoli G, Zerbi S, Baragetti I, Soldati L, Mora S, Dell'Antonio G, Bianchi G. Vezzoli G, et al. Am J Kidney Dis. 1997 Apr;29(4):490-5. doi: 10.1016/s0272-6386(97)90329-2. Am J Kidney Dis. 1997. PMID: 9100036
The proband showed glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. ...Fifteen of the proband's relatives were studied; six of them had renal hypophosphatemia, 10 prese …
The proband showed glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption …