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2017 ; 5
(4
): 438-442
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Different renal phenotypes in related adult males with Fabry disease with the
same classic genotype
#MMPMID28717668
Mignani R
; Moschella M
; Cenacchi G
; Donati I
; Flachi M
; Grimaldi D
; Cerretani D
; Giovanni P
; Montevecchi M
; Rigotti A
; Ravasio A
Mol Genet Genomic Med
2017[Jul]; 5
(4
): 438-442
PMID28717668
show ga
BACKGROUND: Fabry disease related patients with classical mutation usually
exhibit similar severe phenotype especially concerning renal manifestation.
METHODS: A dry blood spot screening (DBS) and the DNA analysis has been performed
in a 48-year-old man (Patient 1) because of paresthesia. RESULTS: The DBS
revealed absent leukocyte ?-Gal A enzyme activity while DNA analysis identified
the I354K mutation. Serum creatinine and e-GFR were in normal range and also
albuminuria and proteinuria were absent. The brain MRI showed ischemic lesions
and a diffuse focus of gliosis in the white matter, while the echocardiogram
showed a left ventricular hypertrophy. The renal biopsy performed in the case
index showed a massive deposition of zebra bodies. By a familiar investigation,
it was recognized that his brother (Patient 2) died 2 years before from sudden
death syndrome at the age of 49. He had suffered sporadic and undiagnosed pain at
the extremities, a prior cataract, bilateral neurosensorial hearing loss and left
ventricular hypertrophy on Echocardiogram. His previous laboratory examinations
revealed a normal serum creatinine and the absence of proteinuria. Pedigree
analysis of the brothers revealed a high disease burden among family members,
with an affected cousin (Patient 3) who progressed early to end-stage renal
disease (ESRD) that required renal transplantation. CONCLUSIONS: Here we describe
the clinical history of three adult male members of the same family with the same
genotype who manifested different presentation and progression of the disease,
particularly concerning the renal involvement.
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