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1. Reflections on TRP and TP/GFR in the definition of renal phosphate loss: conceptual review

Author

García-Nieto, Víctor Manuel, González-Rodríguez, Juan David, Cabrera-Sevilla, José Eugenio, Martín-Fernández de Basoa, María Cecilia, and Luis-Yanes, María Isabel

Subjects
Glomerular filtration rate -- Analysis -- Health aspects, Phosphates -- Physiological aspects -- Health aspects, Kidney diseases -- Diagnosis -- Risk factors -- Demographic aspects, Hypophosphatemia -- Diagnosis -- Risk factors -- Demographic aspects, Health
Abstract

Background Fractional tubular reabsorption of phosphate (TRP) has been used for over 60 years to establish the existence of renal phosphate loss. It is a parameter of corrected volume per decilitre of glomerular filtration rate (GFR). Later, a mass parameter per dl GFR called TP/GFR (tubular PO.sub.4 reabsorption per dl GFR) was devised which some authors have sought to substitute for TRP. The aim of the present work is to attempt to demonstrate that TRP and TP/GFR are similar parameters and, in certain aspects, TRP is more effective for diagnosis. Methods Data were gathered on the metabolism of phosphate corresponding to a group of healthy children without hypophosphatemia (n = 47), a group of patients with idiopathic hypercalciuria (n = 27), and ten patients diagnosed with X-linked hypophosphatemia (XLH). The TRP, the TP/GFR, and the percent tubular reabsorption of phosphate were calculated. Results All the patients with XLH presented TRP values lower than 95 ml/dl GFR and of TP/GFR equal to or lower than 2.8 mg/dl GFR. In the total sample, a direct correlation was observed between TRP and TP/GFR (r = 0.65; p = 0.01). The TRP and the percent tubular reabsorption of phosphate values were the same in the three groups (r = 1; p = 0.01). 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. There is no solid reason for using TP/GFR rather than TRP. Graphical abstract, Author(s): Víctor Manuel García-Nieto [sup.1] , Juan David González-Rodríguez [sup.2] , José Eugenio Cabrera-Sevilla [sup.2] , María Cecilia Martín-Fernández de Basoa [sup.3] , María Isabel Luis-Yanes [sup.1] Author Affiliations: (1) [...]

Published
2023
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27. To the Editor, “The use of urinary osmolality to evaluate postoperative renal function in children with ureteropelvic junction obstruction”

Author

Figueroa, Eduardo Luis Pérez-Etchepare, primary, Mesa, Teresa Moraleda, additional, Hernández Rodríguez, Raquel Angélica, additional, Rosell Echevarría, María José, additional, Tejera Carreño, Patricia, additional, Luis Yanes, María Isabel, additional, Monge Zamorano, Margarita, additional, and García Nieto, Víctor M., additional

Published
2022
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32. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

Author

Pediatría, Pediatria, Rodríguez Rubio, Enrique, Gil Peña, Helena, Chocron, Sara, Madariaga Domínguez, Leire, De la Cerda Ojeda, Francisco, Fernández Fernández, Marta, De Lucas Collantes, Carmen, Gil, Marta, Luis Yanes, María Isabel, Vergara, Inés, González Rodríguez, Juan David, Ferrando, Susana, Antón Gamero, Montserrat, Carrasco Hidalgo-Barquero, Marta, Fernández Escribano, Angustias, Fernández Maseda, Mª Ángeles, Espinosa, Laura, Oliet, Aniana, Vicente, Antonio, Ariceta, Gema, Santos, Fernando, Pediatría, Pediatria, Rodríguez Rubio, Enrique, Gil Peña, Helena, Chocron, Sara, Madariaga Domínguez, Leire, De la Cerda Ojeda, Francisco, Fernández Fernández, Marta, De Lucas Collantes, Carmen, Gil, Marta, Luis Yanes, María Isabel, Vergara, Inés, González Rodríguez, Juan David, Ferrando, Susana, Antón Gamero, Montserrat, Carrasco Hidalgo-Barquero, Marta, Fernández Escribano, Angustias, Fernández Maseda, Mª Ángeles, Espinosa, Laura, Oliet, Aniana, Vicente, Antonio, Ariceta, Gema, and Santos, Fernando

Abstract

BACKGROUND: X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestations of XLH in children, but there is a broad phenotypic variability. Few publications have reported large series of patients. Current data on the clinical spectrum of the disease, the correlation with the underlying gene mutations, and the long-term outcome of patients on conventional treatment are needed, particularly because of the recent availability of new specific medications to treat XLH. RESULTS: The RenalTube database was used to retrospectively analyze 48 Spanish patients (15 men) from 39 different families, ranging from 3months to 8years and 2months of age at the time of diagnosis (median age of 2.0years), and with XLH confirmed by genetic analysis. Bone deformities, radiological signs of active rickets and growth retardation were the most common findings at diagnosis. Mean (±SEM) height was - 1.89±0.19 SDS and 55% (22/40) of patients had height SDS below-2. All cases had hypophosphatemia, serum phosphate being - 2.81±0.11 SDS. Clinical manifestations and severity of the disease were similar in both genders. No genotype-phenotype correlation was found. Conventional treatment did not attenuate growth retardation after a median follow up of 7.42years (IQR=11.26; n=26 patients) and failed to normalize serum concentrations of phosphate. Eleven patients had mild hyperparathyroidism and 8 patients nephrocalcinosis. CONCLUSIONS: This study shows that growth retardation and rickets were the most prevalent clinical manifestations at diagnosis in a large series of Spanish pediatric patients with XLH confirmed by mutations in the PHEX gene. Traditional treatment with phosphate and vitamin D supplements did not improve height or corrected hypophosphatemia and was associated with a risk of hyperparathyroidism and nephrocalcinosis. Th

Published
2021

41. Mutaciones del gen factor nuclear del hepatocito 1β (HNF1β) como causa de afectación renal, hepática y diabetes.

Author

Marisela Bonilla-Ruvalcaba, Diana, Villegas-Nicanor, Paloma, García-Nieto, Víctor M., Tejera-Carreño, Patricia, and Luis-Yanes, María Isabel

Abstract

Copyright of Revista Mexicana de Pediatria is the property of Sociedad Mexicana de Pediatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2021
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42. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.

Author

Rodríguez-Rubio, Enrique, Gil-Peña, Helena, Chocron, Sara, Madariaga, Leire, de la Cerda-Ojeda, Francisco, Fernández-Fernández, Marta, de Lucas-Collantes, Carmen, Gil, Marta, Luis-Yanes, María Isabel, Vergara, Inés, González-Rodríguez, Juan David, Ferrando, Susana, Antón-Gamero, Montserrat, Carrasco Hidalgo-Barquero, Marta, Fernández-Escribano, Angustias, Fernández-Maseda, Mº Ángeles, Espinosa, Laura, Oliet, Aniana, Vicente, Antonio, and Ariceta, Gema

Subjects
PHENOTYPES, HYPOPHOSPHATEMIA, GENETIC disorders, PHENOTYPIC plasticity, DWARFISM, VITAMIN D
Abstract

Background: X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestations of XLH in children, but there is a broad phenotypic variability. Few publications have reported large series of patients. Current data on the clinical spectrum of the disease, the correlation with the underlying gene mutations, and the long-term outcome of patients on conventional treatment are needed, particularly because of the recent availability of new specific medications to treat XLH. Results: The RenalTube database was used to retrospectively analyze 48 Spanish patients (15 men) from 39 different families, ranging from 3 months to 8 years and 2 months of age at the time of diagnosis (median age of 2.0 years), and with XLH confirmed by genetic analysis. Bone deformities, radiological signs of active rickets and growth retardation were the most common findings at diagnosis. Mean (± SEM) height was − 1.89 ± 0.19 SDS and 55% (22/40) of patients had height SDS below—2. All cases had hypophosphatemia, serum phosphate being − 2.81 ± 0.11 SDS. Clinical manifestations and severity of the disease were similar in both genders. No genotype—phenotype correlation was found. Conventional treatment did not attenuate growth retardation after a median follow up of 7.42 years (IQR = 11.26; n = 26 patients) and failed to normalize serum concentrations of phosphate. Eleven patients had mild hyperparathyroidism and 8 patients nephrocalcinosis. Conclusions: This study shows that growth retardation and rickets were the most prevalent clinical manifestations at diagnosis in a large series of Spanish pediatric patients with XLH confirmed by mutations in the PHEX gene. Traditional treatment with phosphate and vitamin D supplements did not improve height or corrected hypophosphatemia and was associated with a risk of hyperparathyroidism and nephrocalcinosis. The severity of the disease was similar in males and females. [ABSTRACT FROM AUTHOR]

Published
2021
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46. Válvulas de uretra posterior y ausencia de reflujo vesicoureteral bilateral. Seguimiento de la función renal.

Author

Guerra-Hernández, Norma E., Camargo-Muñiz, María Dolores, Antón-Hernández, Luis, Luis-Yanes, María Isabel, and García-Nieto, Víctor M.

Subjects
URETHRA, VESICO-ureteral reflux, KIDNEYS, DYSPLASIA, ASCITES
Abstract

Copyright of Boletín Médico del Hospital Infantil de México is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2008

49. Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.

Author

Rodríguez-Rubio, Enrique, Gil-Peña, Helena, Chocron, Sara, Madariaga, Leire, de la Cerda-Ojeda, Francisco, Fernández-Fernández, Marta, de Lucas-Collantes, Carmen, Gil, Marta, Luis-Yanes, María Isabel, Vergara, Inés, González-Rodríguez, Juan David, Ferrando, Susana, Antón-Gamero, Montserrat, Hidalgo-Barquero, Marta Carrasco, Fernández-Escribano, Angustias, Fernández-Maseda, Mº Ángeles, Espinosa, Laura, Oliet, Aniana, Vicente, Antonio, and Ariceta, Gema

Subjects
PHENOTYPES, HYPOPHOSPHATEMIA
Abstract

An amendment to this paper has been published and can be accessed via the original article. [ABSTRACT FROM AUTHOR]

Published
2021
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