Outcome of primary tubular tubulopathies diagnosed in pediatric age
Primary tubulopathies are rare and usually present at pediatric age. Recent advances in genetic diagnosis and treatment have changed its natural history. This study provides the clinical spectrum of a series of primary tubulopathies diagnosed in a Pediatric Nephrology Unit and to offer long-term fol...
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| Veröffentlicht in: | Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 2021-03, Vol.41 (2), p.182-190 |
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| container_title | Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia |
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| creator | Blázquez Gómez, Cristina Julia Gil-Peña, Helena Ordóñez Álvarez, Flor A Santos Rodríguez, Fernando |
| description | Primary tubulopathies are rare and usually present at pediatric age. Recent advances in genetic diagnosis and treatment have changed its natural history. This study provides the clinical spectrum of a series of primary tubulopathies diagnosed in a Pediatric Nephrology Unit and to offer long-term follow-up data regarding growth, estimated glomerular filtration and intercurrent complications.
Observational study in 53 patients with primary tubulopathies and identified genetic defect: Gitelman syndrome (36%), distal renal tubular acidosis (15%), cystinuria (11%), X-linked hypophosphatemic rickets (7%), Dent-syndrome Lowe (7%), cystinosis (6%), and 1-2 cases of other tubulopathies. Demographic, analytical and clinical data were collected at diagnosis, during evolution and at the time of the study.
The age (median and interquartile range) at diagnosis was 5.08 years (1.33-8.50). The most frequent presentation manifestations were metabolic decompensations associated with intercurrent processes (40%) and short stature (38%). Height (mean±SD) was -1.39±1.49 at diagnosis and 1.07±1.54 after a follow-up of 18.92 (6.25-24.33) years. Sixteen (32%) developed an estimated glomerular filtration |
| doi_str_mv | 10.1016/j.nefro.2020.07.015 |
| format | Article |
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Observational study in 53 patients with primary tubulopathies and identified genetic defect: Gitelman syndrome (36%), distal renal tubular acidosis (15%), cystinuria (11%), X-linked hypophosphatemic rickets (7%), Dent-syndrome Lowe (7%), cystinosis (6%), and 1-2 cases of other tubulopathies. Demographic, analytical and clinical data were collected at diagnosis, during evolution and at the time of the study.
The age (median and interquartile range) at diagnosis was 5.08 years (1.33-8.50). The most frequent presentation manifestations were metabolic decompensations associated with intercurrent processes (40%) and short stature (38%). Height (mean±SD) was -1.39±1.49 at diagnosis and 1.07±1.54 after a follow-up of 18.92 (6.25-24.33) years. Sixteen (32%) developed an estimated glomerular filtration<90ml / min / 1.73m
. Three patients required replacement renal replacement. Eleven patients had metabolic decompensations that required hospitalization, 9 renal colic and / or kidney stones and 10 mental problems. Six of 8 patients with distal renal tubular acidosis developed sensorineural deafness.
Primary tubulopathies are a heterogeneous group of diseases that cause growth impairment, largely reversible with treatment, risk of estimated glomerular filtration reduction and significant extrarenal complications derived or associated.</description><identifier>EISSN: 1989-2284</identifier><identifier>EISSN: 2013-2514</identifier><identifier>DOI: 10.1016/j.nefro.2020.07.015</identifier><identifier>PMID: 33358363</identifier><language>eng ; spa</language><publisher>Spain</publisher><ispartof>Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2021-03, Vol.41 (2), p.182-190</ispartof><rights>Copyright © 2020 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,864,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33358363$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Blázquez Gómez, Cristina Julia</creatorcontrib><creatorcontrib>Gil-Peña, Helena</creatorcontrib><creatorcontrib>Ordóñez Álvarez, Flor A</creatorcontrib><creatorcontrib>Santos Rodríguez, Fernando</creatorcontrib><title>Outcome of primary tubular tubulopathies diagnosed in pediatric age</title><title>Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia</title><addtitle>Nefrologia</addtitle><description>Primary tubulopathies are rare and usually present at pediatric age. Recent advances in genetic diagnosis and treatment have changed its natural history. This study provides the clinical spectrum of a series of primary tubulopathies diagnosed in a Pediatric Nephrology Unit and to offer long-term follow-up data regarding growth, estimated glomerular filtration and intercurrent complications.
Observational study in 53 patients with primary tubulopathies and identified genetic defect: Gitelman syndrome (36%), distal renal tubular acidosis (15%), cystinuria (11%), X-linked hypophosphatemic rickets (7%), Dent-syndrome Lowe (7%), cystinosis (6%), and 1-2 cases of other tubulopathies. Demographic, analytical and clinical data were collected at diagnosis, during evolution and at the time of the study.
The age (median and interquartile range) at diagnosis was 5.08 years (1.33-8.50). The most frequent presentation manifestations were metabolic decompensations associated with intercurrent processes (40%) and short stature (38%). Height (mean±SD) was -1.39±1.49 at diagnosis and 1.07±1.54 after a follow-up of 18.92 (6.25-24.33) years. Sixteen (32%) developed an estimated glomerular filtration<90ml / min / 1.73m
. Three patients required replacement renal replacement. Eleven patients had metabolic decompensations that required hospitalization, 9 renal colic and / or kidney stones and 10 mental problems. Six of 8 patients with distal renal tubular acidosis developed sensorineural deafness.
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Observational study in 53 patients with primary tubulopathies and identified genetic defect: Gitelman syndrome (36%), distal renal tubular acidosis (15%), cystinuria (11%), X-linked hypophosphatemic rickets (7%), Dent-syndrome Lowe (7%), cystinosis (6%), and 1-2 cases of other tubulopathies. Demographic, analytical and clinical data were collected at diagnosis, during evolution and at the time of the study.
The age (median and interquartile range) at diagnosis was 5.08 years (1.33-8.50). The most frequent presentation manifestations were metabolic decompensations associated with intercurrent processes (40%) and short stature (38%). Height (mean±SD) was -1.39±1.49 at diagnosis and 1.07±1.54 after a follow-up of 18.92 (6.25-24.33) years. Sixteen (32%) developed an estimated glomerular filtration<90ml / min / 1.73m
. Three patients required replacement renal replacement. Eleven patients had metabolic decompensations that required hospitalization, 9 renal colic and / or kidney stones and 10 mental problems. Six of 8 patients with distal renal tubular acidosis developed sensorineural deafness.
Primary tubulopathies are a heterogeneous group of diseases that cause growth impairment, largely reversible with treatment, risk of estimated glomerular filtration reduction and significant extrarenal complications derived or associated.</abstract><cop>Spain</cop><pmid>33358363</pmid><doi>10.1016/j.nefro.2020.07.015</doi><tpages>9</tpages></addata></record> |
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| ispartof | Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2021-03, Vol.41 (2), p.182-190 |
| issn | 1989-2284 2013-2514 |
| language | eng ; spa |
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| source | DOAJ Directory of Open Access Journals; Alma/SFX Local Collection; EZB Electronic Journals Library |
| title | Outcome of primary tubular tubulopathies diagnosed in pediatric age |
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