Severe renal tubulopathy in a newborn due to BCS1L gene mutation: Effects of different treatment modalities on the clinical course

Gene

Volumn 528, Issue 2, 2013, Pages 364-366

  Ezgu, Fatih ^a   Senaca, Sara ^b   Gunduz, Mehmet ^a   Tumer, Leyla ^a   Hasanoglu, Alev ^a   Tiras, Ulku ^c   Unsal, Rukiye ^c   Bakkaloglu, Sevcan A ^a  

^a GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^b UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^c ANKARA NUMUNE HOSPITAL   (Turkey)

Author keywords

BCS1L gene; Lactic acidosis; Mitochondrial disease; Renal tubulopathy

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BICARBONATE; DICHLOROACETIC ACID; PHENOBARBITAL; PHENYTOIN; PHOSPHATE; STRUCTURAL PROTEIN; UBIQUINOL CYTOCHROME C REDUCTASE;

ACIDOSIS; ALANINE AMINOTRANSFERASE BLOOD LEVEL; AMINOACIDURIA; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BCS1L GENE; BRAIN DISEASE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG DOSE INCREASE; FEMALE; FOCAL EPILEPSY; GENE; GENE MUTATION; GLUCOSURIA; HEPATOMEGALY; HUMAN; KIDNEY TUBULE ABSORPTION; KIDNEY TUBULE DISORDER; LABORATORY TEST; LACTIC ACIDOSIS; LIVER FAILURE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN PERIOD; OXIDATIVE PHOSPHORYLATION; PERITONEAL DIALYSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

BCS1L; BCS1L GENE; DCA; DICHLOROACETATE; GRACILE SYNDROME; GROWTH RETARDATION-AMINOACIDURIA-CHOLESTASIS-IRON OVERLOAD-LACTIC ACIDOSIS-EARLY DEATH SYNDROME; LACTIC ACIDOSIS; MITOCHONDRIAL DISEASE; RENAL TUBULOPATHY;

CONSANGUINITY; ELECTRON TRANSPORT COMPLEX III; FANCONI SYNDROME; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; PSEUDOMONAS INFECTIONS; SEPSIS;

EID: 84883049666     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.07.007     Document Type: Article

References (12)

1. Abdelmalak M., et al. Long-term safety of dichloroacetate in congenital lactic acidosis. Mol. Genet. Metab. 2013, 109:139-143.
2. Barshop B.A., et al. Chronic treatment of mitochondrial disease patients with dichloroacetate. Mol. Genet. Metab. 2004, 83:138-149.
3. de Lonlay P., et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat. Genet. 2001, 29:57-60.
4. De Meirleir L., et al. Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. Am J Med Genet 2003, 121:126-131.
5. DiMauro S., Schon E.A. Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 2003, 26(348):2656-2668.
6. Hinson J.T., et al. Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. N. Engl. J. Med. 2007, 22(356):809-819.
7. Mourmans J., et al. Clinical heterogeneity in respiratory chain complex III deficiency in childhood. Neurol. Sci. 1997, 149:111-117.
8. Neiberger R.E., George J.C., Perkins L.A., Theriaque D.W., Hutson A.D., Stacpoole P.W. Renal manifestations of congenital lactic acidosis. Am J Kidney Dis 2002, 39:12-23.
9. Schetz M. Non-renal indications for continuous renal replacement therapy. Kidney Int. 1999, (Suppl. 72):S88-S94.
10. Tuppen H.A., et al. Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Mol. Genet. Metab. 2010, 100:345-348.
11. Van'T Hoff W.G. Molecular developments in renal tubulopathies. Arch. Dis. Child. 2000, 189-191.
12. Visapaa I., et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am. J. Hum. Genet. 2002, 71:863-876.