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Hipouricemia renal hereditaria tipo 1 y 2 en tres niños españoles. Revisión de casos pediátricos publicados.
Peris Vidal A, Marin Serra J, Lucas Sáez E, Ferrando Monleón S, Claverie-Martin F, Perdomo Ramírez A, Trujillo-Suarez J, Fons Moreno J. Peris Vidal A, et al. Nefrologia (Engl Ed). 2019 Jul-Aug;39(4):355-361. doi: 10.1016/j.nefro.2018.08.010. Epub 2019 Jan 28. Nefrologia (Engl Ed). 2019. PMID: 30704753 Free article. Review. English, Spanish.
Hereditary renal hypouricemia is a rare autosomal recessive genetic disorder that involves an isolated defect in uric acid reabsorption at the renal tubules. ...We describe three asyntomatic pediatric Spanish patients with renal hypouricemia, with gene …
Hereditary renal hypouricemia is a rare autosomal recessive genetic disorder that involves an isolated defect in uric acid rea …
Clinical significance of hypouricemia in children and adolescents.
Köksoy AY, Görükmez Ö, Dorum S. Köksoy AY, et al. Pediatr Nephrol. 2023 Sep;38(9):3017-3025. doi: 10.1007/s00467-023-05948-4. Epub 2023 Mar 31. Pediatr Nephrol. 2023. PMID: 37000195
In the overexcretion group, the final diagnoses were nephropathic cystinosis (n = 6), distal renal tubular acidosis (n = 1), and hereditary renal hypouricemia (n = 1). The diagnostic lag was longer for patients with isolated hypouricemia compared to other patients ( …
In the overexcretion group, the final diagnoses were nephropathic cystinosis (n = 6), distal renal tubular acidosis (n = 1), and hereditary …
Clinical practice guideline for renal hypouricemia (1st edition).
Nakayama A, Matsuo H, Ohtahara A, Ogino K, Hakoda M, Hamada T, Hosoyamada M, Yamaguchi S, Hisatome I, Ichida K, Shinomiya N. Nakayama A, et al. Hum Cell. 2019 Apr;32(2):83-87. doi: 10.1007/s13577-019-00239-3. Epub 2019 Feb 19. Hum Cell. 2019. PMID: 30783949 Free PMC article. Review.
Renal hypouricemia (RHUC) is a disease caused by dysfunction of renal urate reabsorption transporters; however, diagnostic guidance and guidelines for RHUC have been lacking, partly due to the low evidence level of studies on RHUC. ...
Renal hypouricemia (RHUC) is a disease caused by dysfunction of renal urate reabsorption transporters; however, diagnostic gui …
Characterization of Urate Metabolism and Complications of Patients with Renal Hypouricemia.
Miyazaki S, Hamada T, Isoyama T, Okada S, Tomita K, Endo Y, Kuwabara M, Sugihara S, Ogino K, Ninomiya H, Ichida K, Yamamoto K, Takenaka A, Hisatome I. Miyazaki S, et al. Intern Med. 2023 Jul 1;62(13):1915-1920. doi: 10.2169/internalmedicine.0457-22. Epub 2022 Nov 23. Intern Med. 2023. PMID: 36418091 Free PMC article.
Objective Both renal hypouricemia (RHU) and gout are associated with renal dysfunction and urolithiasis. ...
Objective Both renal hypouricemia (RHU) and gout are associated with renal dysfunction and urolithiasis. ...
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.
Claverie-Martin F, Trujillo-Suarez J, Gonzalez-Acosta H, Aparicio C, Justa Roldan ML, Stiburkova B, Ichida K, Martín-Gomez MA, Herrero Goñi M, Carrasco Hidalgo-Barquero M, Iñigo V, Enriquez R, Cordoba-Lanus E, Garcia-Nieto VM; RenalTube Group. Claverie-Martin F, et al. Clin Chim Acta. 2018 Jun;481:83-89. doi: 10.1016/j.cca.2018.02.030. Epub 2018 Feb 24. Clin Chim Acta. 2018. PMID: 29486147
BACKGROUND: Renal hypouricemia (RHUC), a rare inherited disorder characterized by impaired uric acid (UA) reabsorption in the proximal tubule, is caused by mutations in SLC22A12 or SLC2A9. ...
BACKGROUND: Renal hypouricemia (RHUC), a rare inherited disorder characterized by impaired uric acid (UA) reabsorption in the …
Idiopathic renal hypouricemia: A case report and literature review.
Wang C, Wang J, Liu S, Liang X, Song Y, Feng L, Zhong L, Guo X. Wang C, et al. Mol Med Rep. 2019 Dec;20(6):5118-5124. doi: 10.3892/mmr.2019.10726. Epub 2019 Oct 4. Mol Med Rep. 2019. PMID: 31638209 Free PMC article. Review.
Idiopathic renal hypouricemia is a rare hereditary condition. Type 2 renal hyperuricemia (RHUC2) is caused by a mutation in the SLC2A9 gene, which encodes a high-capacity glucose and urate transporter, glucose transporter (GLUT)9. ...In the present study a case of a …
Idiopathic renal hypouricemia is a rare hereditary condition. Type 2 renal hyperuricemia (RHUC2) is caused by a mutation in th …
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 hypercalcemia, Den …
Herein we will review clinical, biochemical, metabolic and genetic characteristics of the inherited diseases which lead to nephrolithiasis/n …
Prevalence and factors related to hypouricemia and hyperuricemia in schoolchildren: results of a large-scale cross-sectional population-based study conducted in Japan.
Aoki Y, Sofue T, Kawakami R, Ozaki T, Manabe M, Kanda K, Yoda T, Kusaka T, Hirao T, Minamino T. Aoki Y, et al. Sci Rep. 2022 Oct 25;12(1):17848. doi: 10.1038/s41598-022-19724-1. Sci Rep. 2022. PMID: 36284103 Free PMC article.
Hypouricemia in children including renal hypouricemia, which is a major cause of exercise-induced acute renal injury (EIAKI), is an important clinical problem, in addition to hyperuricemia. ...
Hypouricemia in children including renal hypouricemia, which is a major cause of exercise-induced acute renal injury (EIAKI), …
Renal hypouricemia in a recipient of living-donor kidney transplantation: a case report and literature review.
Miyauchi T, Terashita M, Ogata M, Murata M, Osako K, Imai N, Sakurai Y, Sasaki H, Ohashi Y, Ichida K, Shibagaki Y, Yazawa M. Miyauchi T, et al. CEN Case Rep. 2022 May;11(2):177-183. doi: 10.1007/s13730-021-00647-1. Epub 2021 Sep 23. CEN Case Rep. 2022. PMID: 34554426 Free PMC article. Review.
Recently, interests in pathogenesis of hypouricemia have been increasing due to the understanding of the role of uric acid transporter in renal hypouricemia (RHUC). We herein report the case of RHUC consequently developed in a KT recipient from a living donor with R …
Recently, interests in pathogenesis of hypouricemia have been increasing due to the understanding of the role of uric acid transporter in …
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes.
Cha DH, Gee HY, Cachau R, Choi JM, Park D, Jee SH, Ryu S, Kim KK, Won HH, Limou S, Myung W, Winkler CA, Cho SK. Cha DH, et al. Sci Rep. 2019 Oct 7;9(1):14360. doi: 10.1038/s41598-019-50798-6. Sci Rep. 2019. PMID: 31591475 Free PMC article.
Differentiating between inherited renal hypouricemia and transient hypouricemic status is challenging. ...
Differentiating between inherited renal hypouricemia and transient hypouricemic status is challenging. ...
47 results