PMID- 28283275
OWN - NLM
STAT- MEDLINE
DCOM- 20180219
LR  - 20180219
IS  - 1578-8989 (Electronic)
IS  - 0025-7753 (Linking)
VI  - 148
IP  - 8
DP  - 2017 Apr 21
TI  - Kidney involvement in MELAS syndrome: Description of 2 cases.
PG  - 357-361
LID - S0025-7753(17)30111-2 [pii]
LID - 10.1016/j.medcli.2017.01.029 [doi]
AB  - INTRODUCTION: MELAS syndrome -myopathy, encephalopathy, lactic acidosis and 
      stroke-like episodes- is a maternally-inherited mitochondrial cytopathy related 
      to several mitochondrial DNA mutations, with the A3243G mutation in tRNA(Leu) 
      gene being the most frequent of them. PATIENTS AND METHODS: Apart from its 
      typical symptomatology, patients usually exhibit a maternally-inherited history 
      of neurosensory deafness and insulin-dependent type 2 diabetes mellitus (T2DM). 
      Recent studies have shown that few patients carrying a A3243G mutation also 
      suffer from renal dysfunction, usually in form of focal segmental 
      glomerulosclerosis (FSGS). RESULTS: In this study we examine kidney involvement 
      in 2 unrelated patients with a A3243G mutation by genetic testing. Both have a 
      maternally-inherited neurosensory deafness and insulin-dependent T2DM. A renal 
      biopsy was performed in both patients. One patient developed nephrotic 
      proteinuria and renal insufficiency, with FSGS findings being observed in the 
      kidney biopsy, whereas the other suffered from mild proteinuria and renal 
      insufficiency, with non-specific glomerular changes. CONCLUSION: The presence of 
      FSGS or other kidney involvement accompanied by hereditary neurosensory deafness 
      and T2DM could be suggestive of a A3243G tRNA(Leu) mutation and should prompt a 
      genetic testing and an evaluation of potential extrarenal involvement.
CI  - Copyright (c) 2017 Elsevier Espana, S.L.U. All rights reserved.
FAU - Alcubilla-Prats, Pau
AU  - Alcubilla-Prats P
AD  - Servei de Nefrologia i Trasplantament Renal, Hospital Clinic, Universidad de 
      Barcelona, Barcelona, Espana.
FAU - Sole, Manel
AU  - Sole M
AD  - Servei de Anatomia Patologica, Hospital Clinic, Universidad de Barcelona, 
      Barcelona, Espana.
FAU - Botey, Albert
AU  - Botey A
AD  - Servei de Nefrologia i Trasplantament Renal, Hospital Clinic, Universidad de 
      Barcelona, Barcelona, Espana.
FAU - Grau, Josep Maria
AU  - Grau JM
AD  - Servei de Medicina Interna, Hospital Clinic, Universidad de Barcelona, Barcelona, 
      Espana; Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), 
      Hospital Clinic, Universidad de Barcelona, Barcelona, Espana.
FAU - Garrabou, Gloria
AU  - Garrabou G
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), 
      Hospital Clinic, Universidad de Barcelona, Barcelona, Espana; Cellex, Institut 
      d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Hospital Clinic, 
      Universidad de Barcelona, Barcelona, Espana.
FAU - Poch, Esteban
AU  - Poch E
AD  - Servei de Nefrologia i Trasplantament Renal, Hospital Clinic, Universidad de 
      Barcelona, Barcelona, Espana. Electronic address: epoch@clinic.cat.
LA  - eng
LA  - spa
PT  - Case Reports
PT  - Journal Article
TT  - Afeccion renal en el sindrome de MELAS: descripcion de 2 casos.
DEP - 20170307
PL  - Spain
TA  - Med Clin (Barc)
JT  - Medicina clinica
JID - 0376377
SB  - IM
CIN - Med Clin (Barc). 2017 Oct 11;149(7):315. PMID: 28602217
CIN - Med Clin (Barc). 2017 Oct 11;149(7):314. PMID: 28647280
MH  - Adult
MH  - Female
MH  - Glomerulosclerosis, Focal Segmental/diagnosis/*etiology
MH  - Humans
MH  - MELAS Syndrome/complications/*diagnosis
MH  - Male
MH  - Middle Aged
MH  - Renal Insufficiency/diagnosis/*etiology
OTO - NOTNLM
OT  - A3243G mutation
OT  - Chronic kidney disease
OT  - Citopatia mitocondrial
OT  - Focal segmental glomerulosclerosis
OT  - Glomeruloesclerosis focal segmentaria
OT  - Insuficiencia renal cronica
OT  - Mitochondrial cythopathy
OT  - Mutacion A3243G
EDAT- 2017/03/12 06:00
MHDA- 2018/02/20 06:00
CRDT- 2017/03/12 06:00
PHST- 2016/10/14 00:00 [received]
PHST- 2017/01/18 00:00 [revised]
PHST- 2017/01/19 00:00 [accepted]
PHST- 2017/03/12 06:00 [pubmed]
PHST- 2018/02/20 06:00 [medline]
PHST- 2017/03/12 06:00 [entrez]
AID - S0025-7753(17)30111-2 [pii]
AID - 10.1016/j.medcli.2017.01.029 [doi]
PST - ppublish
SO  - Med Clin (Barc). 2017 Apr 21;148(8):357-361. doi: 10.1016/j.medcli.2017.01.029. 
      Epub 2017 Mar 7.