Erythropoietin Resistant Anemia in An Infant with End Stage Renal Disease.
Only a few disorder cause severe nephrocalcinosis with end stage renal disease (ESRD) in infancy. Bartter syndrome and the primary hyperoxalurias (PH) are the main causes of severe nephrocalcinosis with ESRD in infancy period. Bartter syndrome was ruled out because of the absence of hyponatremic hyp...
| Publicado en: | Turkiye Klinikleri Journal of Medical Sciences Vol. 31; no. 6; pp. 1607 - 1609 |
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| Autores principales: | , , , , , |
| Formato: | case study Journal Article |
| Publicado: |
Turkiye Klinikleri
Nov/Dec2011
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=104507234&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 104507234 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 13000292 1VOP jtl: Turkiye Klinikleri Journal of Medical Sciences issn: 13000292 maglogo: N pubinfo: dt: Nov/Dec2011 vid: 31 iid: 6 pid: 67298 pub: Turkiye Klinikleri artinfo: ui: 104507234 2011440578 10.5336/medsci.2011-26499 104507234 ppf: 1607 ppct: 2 formats: fmt: @attributes: type: P tig: atl: Erythropoietin Resistant Anemia in An Infant with End Stage Renal Disease. aug: au: Yavascan, Önder Alparslan, Caner Anil, Murat Bal, Alkan Anil, Ayse Berna Aksu, Nejat sug: subj: Anemia Complications Drug Resistance Erythropoietin Adverse Effects Renal Insufficiency Complications Infant Infant: 1-23 months ab: Only a few disorder cause severe nephrocalcinosis with end stage renal disease (ESRD) in infancy. Bartter syndrome and the primary hyperoxalurias (PH) are the main causes of severe nephrocalcinosis with ESRD in infancy period. Bartter syndrome was ruled out because of the absence of hyponatremic hypokalemic metabolic alkalosis and recurrent dehydration attacks in our patient. Urinary chloride level was normal. Furthermore, SLC12A1 and CLCNKB gene analyses showed no mutation. Therefore, the most likely etiology in this infant with ESRD was the primary hyperoxalurias. The primary hyperoxalurias are autosomal recessive and rare metabolic disorders resulting from deficiencies of the hepatic peroxisomal enzyme alanine-glyoxlate aminotransferase (PH-1) and the enzyme glyoxylate reductase/hydroxypyruvate reductase (PH-2) which cause excessive oxalate formation and calcium oxalate deposition in various organs.1,2 The most common type of primary hyperoxaluria is type 1. Diagnosis relies on detection of increased levels of oxalate in urine (N: < 0.5 mmol/l/1.73m2 per day) and either assay enzyme activity from liver biopsy or molecular genetic testing of associated gene. Liver biopsy is still considered as the gold standard, but it is an invasive process and bears some risks. Genetic analysis provides some additional non-diagnostic information.1,2 However, the diagnosis of PH-1 was mainly established on the basis of clinical and radiologic findings in our case. Urine oxalate level could not be measured on admission due to financial problems of the family, and then urine output abruptly decreased. pubtype: Academic Journal doctype: case study Journal Article ougenre: Article language: Turkish refInfo: holdings: @attributes: islocal: N |
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