Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report

Abstract

IntroductionWe report what we believe to be the first case of a child affected by two rare vascular diseases complicated by kidney failure and successfully treated by kidney transplantation.Case presentationA 3-year-old Caucasian girl with fibromuscular dysplasia and infantile myofibromatosis presented with arterial hypertension and renal failure. She received a deceased donor kidney transplantation distal to an iliac graft. The technical peculiarities of this transplantation are described, as well as her favorable long-term outcome.ConclusionKidney transplantation may be considered in a patient with vascular diseases and a history of iliac surgery.

Kidney transplantation from living donor with monolateral renal artery fibromuscular dysplasia using a cryopreserved iliac graft for arterial reconstruction: a case report and review of the literature

“…Rapid progression of mild FMD one year after transplantation have been reported, suggesting FMD cannot be considered benign in a potential normotensive renal donor [ 9 ]. Nevertheless, it has also been reported that carefully selected patients with FMD have been successfully used as renal donors [ 18 – 20 , 24 , 25 ]. In fact, among asymptomatic renal donors with FMD presenting mild irregularity and no significant stenosis of the renal artery, none of them exhibited hypertension, proteinuria, or significant changes in serum creatinine level throughout a mean follow up of 4,5 years after donation [ 19 ].…”

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

“…The second was a man with segmental overgrowth, thin, discolored skin, and multiple intra‐ and extracranial fusiform aneurysms with a different GOF variant (Karasozen et al, 2019). Notably, fusiform cerebral, coronary, and renal aneurysms have all been reported in individuals with constitutional PDGFRB GOF phenotypes (Brasseur et al, 2010; Frezin, Fusaro, Reding, & Godefroid, 2015; Zarate et al, 2019; Zufferey et al, 2013). More restricted mosaic GOF variants of PDGFRB found only in affected tissue have been seen in sporadic myofibromas, and less often in myopericytomas and fusiform aneurysms (Arts et al, 2016; Hung & Fletcher, 2017; Karasozen et al, 2019; Zhong et al, 2018).…”

“…The second was a man with segmental overgrowth, thin, discolored skin, and multiple intra-and extracranial fusiform aneurysms with a different GOF variant (Karasozen et al, 2019). Notably, fusiform cerebral, coronary, and renal aneurysms have all been reported in individuals with constitutional PDGFRB GOF phenotypes (Brasseur et al, 2010;Frezin, Fusaro, Reding, & Godefroid, 2015;Zarate et al, 2019;Zufferey et al, 2013).…”

“…At 8 weeks of therapy, his scars had thinned and become less prominent, and his parents report they had to start trimming his fingernails again, which they had not done for some time.4 | DISCUSSIONTo better understand the range of PDGFRB phenotypes, we per-formed detailed genotype-phenotype analysis on a cohort of 74 individuals with known or presumed mutations of PDGFRB, including the 12 individuals reported here and another 62 for whom individuallevel data were provided in prior reports. The cohort included 46 individuals with confirmed PDGFRB pathogenic GOF variants, a PDGFRB+ group (AlQawahmed et al, 2019;Arts et al, 2016;Brasseur et al, 2010;Bredrup et al, 2019;Cheung et al, 2013;Frezin et al, 2015;Gawli nski et al, 2018;Guimier et al, 2019;Johnston et al, 2015;Karasozen et al, 2019;Lepelletier et al, 2017;Minatogawa et al, 2017;Mudry et al, 2017;Murray et al, 2017;Penttinen, Niemi, Vinkka-Puhakka, Johansson, & Aula, 1997;Pond et al, 2018;Takenouchi et al, 2015;Zarate et al, 2019;Zhang et al, 2018;Zufferey et al, 2013), and another 28 with phenotype data only, mostly from older reports-a PDGFRB-S or suspected group(Guimier et al, 2019;Hausbrandt et al, 2010;Holzer-Fruehwald, Blaser, Rossi, Fruehwald-Pallamar, & Thurnher, 2012;Kaplan, Ojemann, Grange, Fuller, & Park, 2002;Kulkarni, Desai, Grundy, & Sergi, 2012;Pelluard-Nehmé et al, 2007;Spadola, Anooshiravani, Sayegh, Jequier, & Hanquinet, 2002). For the purposes of this analysis, we excluded the three individuals with unicentric Castleman disease with PDGFRB variants in affected lymph nodes, as 91% of individuals with unicentric Castleman disease were not found to harbor PDGFRB variants, and several other pathogenic variants were identified in affected tissue of other patients with the same phenotype(Li et al, 2019).4.1 | Phenotype analysis...…”

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

“…Mortality rates up to 76-93%, often due to cardiopulmonary or gastrointestinal complications, were observed in published cohorts of 28 to 31 children with multicentric disease with multiple visceral IM lesions [33,36,40]. Of note, aneurysms and fibromuscular dysplasia were reported in patients after a prior diagnosis of sporadic IM [15, [41][42][43]. A few children with sporadic IM were also reported to develop malignant tumors in addition to IM: fibrosarcomatous transformation of a congenital solitary IM was observed in a 14-months-old child [44].…”