Metabolite diagnosis of primary hyperoxaluria type 3.

Tytuł:: Metabolite diagnosis of primary hyperoxaluria type 3.
Autorzy:: Greed L; Department of Clinical Biochemistry, Princess Margaret Hospital for Children, Perth, Australia.
Willis F; Department of Nephrology, Princess Margaret Hospital for Children, Perth, Australia.
Johnstone L; Department of Nephrology, Monash Children's Hospital, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia.
Teo S; Department of Nephrology, Monash Children's Hospital, Melbourne, Australia.
Belostotsky R; Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel.
Frishberg Y; Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel.
Pitt J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. .; Department of Paediatrics, University of Melbourne, Melbourne, Australia. .
Źródło:: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2018 Aug; Vol. 33 (8), pp. 1443-1446. Date of Electronic Publication: 2018 Apr 28.
Typ publikacji:: Case Reports; Journal Article
Język:: English
Imprint Name(s):: Publication: Berlin : Springer International
Original Publication: Berlin : Springer International, c1987-
MeSH Terms:: Glutamates/*urine
Hyperoxaluria, Primary/*diagnosis
Ketoglutaric Acids/*urine
Kidney Calculi/*etiology
Oxalates/*urine
Adolescent ; Female ; Glutamates/metabolism ; Humans ; Hyperoxaluria, Primary/complications ; Hyperoxaluria, Primary/genetics ; Hyperoxaluria, Primary/urine ; Infant ; Ketoglutaric Acids/metabolism ; Kidney Calculi/therapy ; Kidney Calculi/urine ; Lithotripsy ; Male ; Metabolomics/methods ; Oxo-Acid-Lyases/genetics ; Oxo-Acid-Lyases/metabolism ; Recurrence ; Tandem Mass Spectrometry
References:: Ann Clin Biochem. 2016 Jul;53(Pt 4):485-94. (PMID: 26342005)
Biochim Biophys Acta. 2012 Oct;1822(10 ):1544-52. (PMID: 22771891)
Am J Hum Genet. 2010 Sep 10;87(3):392-9. (PMID: 20797690)
Clin J Am Soc Nephrol. 2011 Sep;6(9):2289-95. (PMID: 21896830)
Pediatr Nephrol. 2015 Oct;30(10):1781-91. (PMID: 25519509)
JIMD Rep. 2015;15:1-6. (PMID: 24563386)
Eur J Hum Genet. 2013 Feb;21(2):162-72. (PMID: 22781098)
Pediatr Nephrol. 2015 Oct;30(10):1807-13. (PMID: 25972204)
Clin Chem. 2002 Nov;48(11):1970-80. (PMID: 12406983)
J Am Soc Nephrol. 2015 Oct;26(10 ):2559-70. (PMID: 25644115)
J Mol Med (Berl). 2012 Dec;90(12):1497-504. (PMID: 22729392)
Contributed Indexing:: Keywords: Calculi; HOGA1; Oxaluria; Primary hyperoxaluria type 3; Screening
Substance Nomenclature:: 0 (Glutamates)
0 (Ketoglutaric Acids)
0 (Oxalates)
533-62-0 (hydroxyglutamic acid)
EC 4.1.3.- (Oxo-Acid-Lyases)
EC 4.1.3.16 (4-hydroxy-2-oxoglutarate aldolase)
Entry Date(s):: Date Created: 20180430 Date Completed: 20190927 Latest Revision: 20190927
Update Code:: 20240104
DOI:: 10.1007/s00467-018-3967-6
PMID:: 29705963
: Czasopismo naukowe

Pełny tekst

Background: Primary hyperoxaluria type 3 (PH3) is a recently described cause of childhood renal calculi. It results from mutations in the HOGA1 gene and most cases have been diagnosed after clinical ascertainment, exclusion of other genetic hyperoxalurias and mutation testing. Metabolite testing has not been widely applied but holds promise for the rapid screening and diagnosis of patients who are not specifically suspected to have PH3.
Case-Diagnosis/treatment: Two cases presented with renal calculi. Urine metabolite testing by tandem mass spectrometry was performed as part of the routine diagnostic work-up for this condition. Both had significantly increased levels of the PH3 urine marker 4-hydroxyglutamate and related metabolites. The diagnosis of PH3 was confirmed by the finding of bi-allelic damaging HOGA1 mutations.
Conclusions: Urine screening by tandem mass spectrometry is a rapid, high-throughput test that can detect PH3 cases that may otherwise not be diagnosed.

Zaloguj się, aby uzyskać dostęp do pełnego tekstu.

Informacja