Pre-Transplant Assessment of Vascular Calcification as a Risk Factor of Mortality, Graft Loss, and Cardiovascular Events in Renal Transplant Recipients.

BACKGROUND: Vascular calcification (VC) is known as an independent predictor of mortality in patients undergoing hemodialysis; nevertheless, there is a lack of studies about the impact of vascular calcification in renal transplant recipients, and none of them use the Kauppila Index (KI) as a predictor of patient and graft prognosis. METHODS: We conducted an observational, retrospective study of 119 renal transplants, evaluating abdominal aortic calcifications (L4-S1) with the KI. We established 2 categories: absence (KI = 0-2) and presence (KI = 3-24) of VCs before transplantation. We analyzed the impact of calcification in graft and patient survival, new-onset diabetes mellitus, hypertension, cardiovascular events, renal function, and mineral metabolism. RESULTS: VCs were observed in 50 patients (42%) before renal transplantation. Patients with VCs were older, but no statistical differences were found in the pre-transplant study between sex, diabetes, body mass index, and cardiovascular events. We found a major patient survival (limited to first 2 years after transplantation), graft survival, and death-censored graft survival in those without VCs (P = .037, P = .015, and P = .023, respectively). In line with results, a higher incidence of major cardiovascular events (MACE) and cardiovascular death was observed in the group with preexisting calcification (P = .016/P = .019). In the multivariable analysis, VCs were not an independent predictor for graft loss, death-censored graft loss, or major cardiovascular events. CONCLUSIONS: Simple evaluation of VCs with the use of the KI at the time of transplantation relates with graft and patient survival and with MACE after renal transplantation.

Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1.

Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. To date, 4 different genes have been identified as responsible for the presence of KS; however, in many cases no mutations have been found in any of these genes. Herein, we report the molecular findings regarding the analysis of fibroblast growth factor receptor 1 (FGFR1), prokineticin receptor 2 (PROKR2), and prokineticin (PROK2) in patients with KS. Twenty-four patients with KS were studied in whom mutations in KAL1 had been investigated previously. Polymerase chain reaction products from FGFR1, PROKR2, and PROK2 were sequenced and mutations were sought in the open reading frame of the 3 genes. Two patients presented a heterozygous T-to-G transversion in exon 2 (c.518T>G) of the PROKR2, which results in a leucine-to-arginine substitution at codon 173. Our results strengthen the hypothesis of possible digenic inheritance in some patients with KS. Likewise, our data extend previous reports demonstrating that PROKR2 plays a role in the etiology of this syndrome.