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Leigh syndrome with nephrotic syndrome

MedGen UID:
1678587
•Concept ID:
C5190833
•
Disease or Syndrome
Synonyms: Infantile subacute necrotizing encephalopathy with nephrotic syndrome; Leigh disease with nephrotic syndrome
SNOMED CT: Infantile subacute necrotizing encephalopathy with nephrotic syndrome (783157004); Leigh disease with nephrotic syndrome (783157004); Leigh syndrome with nephrotic syndrome (783157004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Orphanet: ORPHA255249

Definition

A rare genetic neurometabolic disease with characteristics of encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeigh syndrome with nephrotic syndrome

Recent clinical studies

Etiology

An evaluation of phase angle, bioelectrical impedance vector analysis and impedance ratio for the assessment of disease status in children with nephrotic syndrome.
Brantlov S, Jødal L, Andersen RF, Lange A, Rittig S, Ward LC
BMC Nephrol 2019 Aug 22;20(1):331. doi: 10.1186/s12882-019-1511-y. PMID: 31438871Free PMC Article

Diagnosis

An evaluation of phase angle, bioelectrical impedance vector analysis and impedance ratio for the assessment of disease status in children with nephrotic syndrome.
Brantlov S, Jødal L, Andersen RF, Lange A, Rittig S, Ward LC
BMC Nephrol 2019 Aug 22;20(1):331. doi: 10.1186/s12882-019-1511-y. PMID: 31438871Free PMC Article
Graves' disease in a 3 year-old patient with agranulocytosis due to anti-thyroid drugs: Radioiodine ablation therapy as an effective alternative.
Espinosa-Muñoz E, Ramírez-Ocaña D, Martín-García AM, Ruiz-García FJ, Puentes-Zarzuela C
Rev Esp Med Nucl Imagen Mol 2017 Jul-Aug;36(4):260-262. Epub 2017 Apr 6 doi: 10.1016/j.remn.2016.12.005. PMID: 28392335

Therapy

Graves' disease in a 3 year-old patient with agranulocytosis due to anti-thyroid drugs: Radioiodine ablation therapy as an effective alternative.
Espinosa-Muñoz E, Ramírez-Ocaña D, Martín-García AM, Ruiz-García FJ, Puentes-Zarzuela C
Rev Esp Med Nucl Imagen Mol 2017 Jul-Aug;36(4):260-262. Epub 2017 Apr 6 doi: 10.1016/j.remn.2016.12.005. PMID: 28392335
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.
López LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, Dimauro S, Hirano M
Am J Hum Genet 2006 Dec;79(6):1125-9. Epub 2006 Oct 27 doi: 10.1086/510023. PMID: 17186472Free PMC Article

Clinical prediction guides

An evaluation of phase angle, bioelectrical impedance vector analysis and impedance ratio for the assessment of disease status in children with nephrotic syndrome.
Brantlov S, Jødal L, Andersen RF, Lange A, Rittig S, Ward LC
BMC Nephrol 2019 Aug 22;20(1):331. doi: 10.1186/s12882-019-1511-y. PMID: 31438871Free PMC Article

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