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2017 ; 18
(1
): 97
Nephropedia Template TP
gab.com Text
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English Wikipedia
Living kidney transplantation between brothers with unrecognized renal
amyloidosis as the first manifestation of familial Mediterranean fever: a case
report
#MMPMID28859624
Peces R
; Afonso S
; Peces C
; Nevado J
; Selgas R
BMC Med Genet
2017[Aug]; 18
(1
): 97
PMID28859624
show ga
BACKGROUND: Familial Mediterranean fever is an autosomal recessive disease
characterized by recurrent episodes of fever and polyserositis and by the onset
of reactive amyloid-associated amyloidosis. Amyloidosis due to familial
Mediterranean fever can lead to end-stage renal disease, culminating in kidney
transplantation for some patients. In this study, we report the clinical outcome
of two brothers with familial Mediterranean fever who were the inadvertent donor
and recipient, respectively, of a kidney. Subsequently, they were diagnosed with
renal amyloidosis secondary to familial Mediterranean fever and were successfully
treated with anakinra and colchicine. CASE PRESENTATION: Two brothers with
familial Mediterranean fever and renal amyloidosis were the inadvertent donor and
recipient, respectively, of a kidney. The recipient had presented recurrent acute
febrile episodes of familial Mediterranean fever, developed nephrotic syndrome
secondary to amyloidosis and needed bilateral nephrectomy and chronic dialysis.
His elder brother, in apparent good health, donated his left kidney to his
brother. Immediately after the kidney transplantation, both the donor and
recipient presented massive proteinuria, impaired renal function and elevated
serum amyloid A levels. Biopsies of the brothers' kidneys showed amyloidosis.
Genetic studies thereafter revealed a homozygous variant for the MEFV gene
(NM_000243.2.c.2082G > A; p.M694I) in both brothers. At this point, both the
donor and recipient were treated with colchicine and anakinra, resulting in
improved renal function, decreased proteinuria, undetectable serum amyloid A
levels and stable renal function at 62 months of follow-up and no major adverse
effects. CONCLUSIONS: In familial Mediterranean fever, analyses of the MEFV gene
should be performed in potential live kidney donors from a direct family member
(either between siblings or between parents and children). In addition, genetic
studies are required when consanguinity is suspected between members involved in
the living transplant. Finally, anakinra could be a safe adjuvant therapy
combined with colchicine for patients with familial Mediterranean fever and
amyloidosis, including those with successful kidney transplantation.