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Literature DB >> 35445976

A case of chronic kidney disease with pulmonary hypertension, hyperuricemia, immunodeficiency and other extrarenal findings: Answers.

Nilüfer Göknar¹, Emre Keleşoğlu², Nurhan Kasap³, Diana Üçkardeş², Cengiz Candan².

Abstract

Entities: Chemical

Keywords: Child; Chronic kidney disease; HUPRA syndrome; Mitochondrial cytopathy; SARS2 mutation

Mesh：

Year: 2022 PMID： 35445976 DOI： 10.1007/s00467-022-05560-y

Source DB: PubMed Journal: Pediatr Nephrol ISSN： 0931-041X Impact factor: 3.651

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References

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8 in total

1. Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.

Authors: Fernando Scaglia; Hannes Vogel; Edith P Hawkins; Georgirene D Vladutiu; Ling-Ling Liu; Lee-Jun C Wong
Journal: Am J Med Genet A Date: 2003-12-01 Impact factor: 2.802

2. Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.

Authors: Tarja Linnankivi; Nirajan Neupane; Uwe Richter; Pirjo Isohanni; Henna Tyynismaa
Journal: Hum Mutat Date: 2016-06-27 Impact factor: 4.878

Review 3. Mitochondrial energetics in the kidney.

Authors: Pallavi Bhargava; Rick G Schnellmann
Journal: Nat Rev Nephrol Date: 2017-08-14 Impact factor: 28.314

4. Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion.

Authors: M W Becher; M L Wills; W W Noll; O Hurko; D L Price
Journal: Hum Pathol Date: 1999-05 Impact factor: 3.466

5. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.

Authors: Ruth Belostotsky; Efrat Ben-Shalom; Choni Rinat; Rachel Becker-Cohen; Sofia Feinstein; Sharon Zeligson; Reeval Segel; Orly Elpeleg; Suheir Nassar; Yaacov Frishberg
Journal: Am J Hum Genet Date: 2011-01-20 Impact factor: 11.025

A case of chronic kidney disease with pulmonary hypertension, hyperuricemia, immunodeficiency and other extrarenal findings: Answers.

1. Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.

2. Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.

Review 3. Mitochondrial energetics in the kidney.

4. Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion.

5. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.

Review 6. Primary coenzyme Q10 (CoQ 10) deficiencies and related nephropathies.

Review 7. Mitochondrial DNA mutations in renal disease: an overview.

8. A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.