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The authors report on the use of a patch of peritoneum in the reconstruction of the renal pelvis. Four successful cases are reported. This leads to the use of such a technique in the reconstruction of the pelvis whenever repair by simple apposition of the margins is impossible.

Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infusions of agalsidase alfa. For the whole cohort, the average duration of home therapy was 1 year and 11 months (range 3 months–4 years and 6 months), and during this period, compliance to treatment (number of infusions performed vs scheduled) reached 100%. The EQ-5 VAS scale was administered to patients to evaluate the self-reported QoL, 58% of patients showing an increase of EQ-5 VAS score at follow up compared to baseline (home treatment start) or remaining stable. A mild increase of average disease severity, measured through Mainz Severity Score Index (MSSI), was found during hospital treatment (p

// Francesca Scionti 1, * , Maria Teresa Di Martino 1, * , Simona Sestito 2 , Angela Nicoletti 2 , Francesca Falvo 2 , Katia Roppa 2 , Mariamena Arbitrio 3 , Pietro Hiram Guzzi 4 , Giuseppe Agapito 4 , Antonio Pisani 5 , Eleonora Riccio 5 , Daniela Concolino 2, # and Licia Pensabene 2, # 1 Department of Experimental and Clinical Medicine, Magna Graecia University, Salvatore Venuta University Campus, Catanzaro, Italy 2 Department of Medical and Surgical Sciences Pediatric Unit, Magna Graecia University, Catanzaro, Italy 3 ISN-CNR, Roccelletta di Borgia, Catanzaro, Italy 4 Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy 5 Department of Nephrology, University Federico II, Naples, Italy * These authors contributed equally to the work # These authors contributed equally to this work and share senior authorship Correspondence to: Maria Teresa Di Martino, email: teresadm@unicz.it Licia Pensabene, email: pensabene@unicz.it Keywords: Fabry disease; enzyme replacement therapy; DMET; ADH genes; oxidative stress Received: August 24, 2017 Accepted: October 29, 2017 Published: November 18, 2017 ABSTRACT Enzyme replacement therapy (ERT) has been widely used for the treatment of Fabry disease, a rare X-linked recessive disorder due to absent or reduced activity of lysosomal enzyme α-galactosidase A. It is still unclear why some patients under ERT show disease progression typically with renal, cardiovascular and cerebrovascular dysfunctions. Here, we investigated the involvement of drug absorption, distribution, metabolism, and excretion gene variants in response variability to ERT, genotyping 37 patients with the Affymetrix Drug Metabolizing Enzyme and Transporters (DMET) Plus microarray. We found three single nucleotide polymorphisms in human alcohol dehydrogenase (ADH)4 gene (rs1126670, rs1126671, rs2032349) and one in ADH5 gene (rs2602836) associated with disease progression ( p < 0.05). Our data provide a basic tool for identification of patient with ERT non-response risk that may represent a framework for personalized treatment of this rare disease.