Literature DB >> 18810341

Primary hyperoxaluria type 1 with a novel mutation.

Sidharth Kumar Sethi1, Hans R Waterham, Sonika Sharma, Alok Sharma, Pankaj Hari, Arvind Bagga.   

Abstract

Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function.

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Year:  2008        PMID： 18810341     DOI： 10.1007/s12098-008-0187-2

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  10 in total

Review 1.  Current approaches to the management of primary hyperoxaluria.

Authors:  P Cochat; O Basmaison
Journal:  Arch Dis Child       Date:  2000-06       Impact factor: 3.791

Review 2.  Transplantation strategies in type 1 primary hyperoxaluria: the issue of pyridoxine responsiveness.

Authors:  M Marangella
Journal:  Nephrol Dial Transplant       Date:  1999-02       Impact factor: 5.992

Review 3.  The primary hyperoxalurias.

Authors:  Ernst Leumann; Bernd Hoppe
Journal:  J Am Soc Nephrol       Date:  2001-09       Impact factor: 10.121

4.  Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure.

Authors:  B Hoppe; D Graf; G Offner; K Latta; D J Byrd; D Michalk; J Brodehl
Journal:  Pediatr Nephrol       Date:  1996-08       Impact factor: 3.714

5.  Clinical implications of mutation analysis in primary hyperoxaluria type 1.

Authors:  Christiaan S van Woerden; Jaap W Groothoff; Frits A Wijburg; Carla Annink; Ronald J A Wanders; Hans R Waterham
Journal:  Kidney Int       Date:  2004-08       Impact factor: 10.612

6.  Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

Authors:  Gill Rumsby; Emma Williams; Marion Coulter-Mackie
Journal:  Kidney Int       Date:  2004-09       Impact factor: 10.612

7.  Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.

Authors:  A Santana; E Salido; A Torres; L J Shapiro
Journal:  Proc Natl Acad Sci U S A       Date:  2003-05-30       Impact factor: 11.205

Review 8.  Primary hyperoxaluria: genotype-phenotype correlation.

Authors:  Doroti Pirulli; Martino Marangella; Antonio Amoroso
Journal:  J Nephrol       Date:  2003 Mar-Apr       Impact factor: 3.902

9.  Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.

Authors:  Carla G Monico; Sandro Rossetti; Heidi A Schwanz; Julie B Olson; Patrick A Lundquist; D Brian Dawson; Peter C Harris; Dawn S Milliner
Journal:  J Am Soc Nephrol       Date:  2007-04-25       Impact factor: 10.121

10.  Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.

Authors:  Yuet-Ping Yuen; Chi-Kong Lai; Gensy Mei-Wah Tong; Ping-Nam Wong; Francis Kim-Ming Wong; Siu-Ka Mak; Kin-Yee Lo; Andrew Kui-Man Wong; Sui-Fan Tong; Yan-Wo Chan; Ching-Wan Lam
Journal:  J Nephrol       Date:  2004 May-Jun       Impact factor: 3.902
  10 in total
  2 in total

1.  Common mutation underlying primary hyperoxaluria type1 in three Indian children.

Authors:  R Chanchlani; A Sinha; A Gulati; V Agarwal; A Bagga
Journal:  Indian J Nephrol       Date:  2012-11

2.  Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child.

Authors:  S Krishnamurthy; G B Kartha; V S Venkateswaran; M Prasannakumar; S Mahadevan; M Gowda; A Pelle; D Giachino
Journal:  Indian J Nephrol       Date:  2017 Sep-Oct
  2 in total

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