Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A case of Pearson syndrome associated with multiple renal cysts.

Literature DB >> 8897573

A case of Pearson syndrome associated with multiple renal cysts.

A Gürgey¹, I Ozalp, A Rötig, T Coşkun, G Tekinalp, G Erdem, Z Akeören, M Caglar, A Bakkaloglu.

Abstract

A 41-day-old infant who had severe metabolic acidosis, anemia, bleeding, hypoglycemia, and proximal tubulopathy was diagnosed with Pearson syndrome. Fibrosis in the liver, severe iron deposition in hepatocytes, and multiple renal cortical cysts were found on postmortem examination. Southern blot analysis of mitochondrial DNA obtained from peripheral blood revealed a heteroplasmic deletion of approximately 3.5 kilobases.

Entities: Chemical Disease Species

Mesh：

Substances：
DNA, Mitochondrial

Year: 1996 PMID： 8897573 DOI： 10.1007/s004670050178

Source DB: PubMed Journal: Pediatr Nephrol ISSN： 0931-041X Impact factor: 3.714

6 in total

1. Association of hypokalemia, aldosteronism, and renal cysts.

Authors: V E Torres; W F Young; K P Offord; R R Hattery
Journal: N Engl J Med Date: 1990-02-08 Impact factor: 91.245

2. Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

Authors: A Rötig; V Cormier; F Koll; C E Mize; J M Saudubray; A Veerman; H A Pearson; A Munnich
Journal: Genomics Date: 1991-06 Impact factor: 5.736

3. Polycystic renal disease: a new experimental model.

Authors: D Y Perey; R C Herdman; R A Good
Journal: Science Date: 1967-10-27 Impact factor: 47.728

4. Adrenal corticosteroid-induced renal cystic disease in the newborn hamster.

Authors: R B Filmer; F A Carone; R G Rowland; J R Babcock
Journal: Am J Pathol Date: 1973-09 Impact factor: 4.307

5. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome.

Authors: P Niaudet; L Heidet; A Munnich; J Schmitz; F Bouissou; M C Gubler; A Rötig
Journal: Pediatr Nephrol Date: 1994-04 Impact factor: 3.714

6. Pearson's marrow-pancreas syndrome in 2 Turkish children.

Authors: A Gürgey; A Rötig; F Gümrük; P Cemeroğlu; F Sarialioğlu; C Altay
Journal: Acta Haematol Date: 1992 Impact factor: 2.195

6 in total

11 in total

1. Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes.

Authors: Lucie Hertz-Pannier; Michele Déchaux; Martine Sinico; Sophie Emond; Valerie Cormier-Daire; Jean-Marie Saudubray; Francis Brunelle; Patrick Niaudet; Nathalie Seta; Pascale de Lonlay
Journal: Pediatr Radiol Date: 2005-11-22

Review 2. Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

Authors: Sophie Collardeau-Frachon; Marie-Pierre Cordier; Massimiliano Rossi; Laurent Guibaud; Christine Vianey-Saban
Journal: J Inherit Metab Dis Date: 2016-04-22 Impact factor: 4.982

3. Consider a mitochondrial disorder when left ventricular hypertrabeculation/noncompaction is associated with renal cysts.

Authors: Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal: Tex Heart Inst J Date: 2014-12-01

A case of Pearson syndrome associated with multiple renal cysts.

1. Association of hypokalemia, aldosteronism, and renal cysts.

2. Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

3. Polycystic renal disease: a new experimental model.

4. Adrenal corticosteroid-induced renal cystic disease in the newborn hamster.

5. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome.

6. Pearson's marrow-pancreas syndrome in 2 Turkish children.

1. Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes.

Review 2. Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

3. Consider a mitochondrial disorder when left ventricular hypertrabeculation/noncompaction is associated with renal cysts.

4. An association of tubular dysfunction, cortical macrocysts and chronic kidney disease.

5. Renal pathology in children with mitochondrial diseases.

6. Renal manifestations of primary mitochondrial disorders.

7. Renal mitochondrial cytopathies.

Review 8. Renal involvement in mitochondrial cytopathies.

9. Mitochondrial DNA with a large-scale deletion causes two distinct mitochondrial disease phenotypes in mice.

10. Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.