Search

Chylous ascites is rarely observed in patients undergoing peritoneal dialysis Here, we present the occurrence of chyloperitoneum in a peritoneal dialysis patient disappeared immediately after discontinuation of calcium-antagonist., (Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.)

Alport syndrome (ATS) is a genetically heterogeneous nephropathy with considerable phenotypic variability and different transmission patterns, including monogenic (X-linked/autosomal) and digenic inheritance (DI). Here we present a new series of families with DI and we discuss the consequences for genetic counseling and risk assessment. Out of five families harboring variants in more than one COL4 gene detected by next generation sequencing (NGS), minigene-splicing assay allowed us to identify four as true digenic. Two families showed COL4A3/A4 mutations in cis, mimicking an autosomal dominant inheritance with a more severe phenotype and one showed COL4A3/A4 mutations in trans, mimicking an autosomal recessive inheritance with a less severe phenotype. In a fourth family, a de novo mutation (COL4A5) combined with an inherited mutation (COL4A3) triggered a more severe phenotype. A fifth family, predicted digenic on the basis of silico tools, rather showed monogenic X-linked inheritance due to a hypomorphic mutation, in accordance with a milder phenotype. In conclusion, this study highlights the impact of DI in ATS and explains the associated atypical presentations. More complex inheritance should be therefore considered when reviewing prognosis and recurrence risks. On the other side, these findings emphasize the importance to accompany NGS with splicing assays in order to avoid erroneous identification of at risk members., (© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The mode of inheritance of Alport syndrome (ATS) has long been controversial. In 1927, the disease was hypothesized as a dominant condition in which males were more severely affected than females. In 1990, it was considered an X-linked (XL) semidominant condition, due to COL4A5 mutations. Later on, a rare autosomal recessive (AR) form due to COL4A3/COL4A4 mutations was identified. An autosomal dominant (AD) form was testified more recently by the description of some large pedigrees but the real existence of this form is still questioned by many and its exact prevalence is unknown. The introduction of next generation sequencing (NGS) allowed us to perform an unbiased simultaneous COL4A3-COL4A4-COL4A5 analysis in 87 Italian families (273 individuals) with clinical suspicion of ATS. In 48 of them (55%), a mutation in one of the three genes was identified: the inheritance was XL semidominant in 65%, recessive in 4% and most interestingly AD in 31% (15 families). The AD form must therefore be seriously taken into account in all pedigrees with affected individuals in each generation. Furthermore, a high frequency of mutations (>50%) was shown in patients with only 1 or 2 clinical criteria, suggesting NGS as first-level analysis in cases with a clinical suspicion of ATS., (© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Since 1985, we have been treating patients with daily hemodialysis (D-HD). We report our results with 22 patients treated on D-HD and daily home hemodialysis (DHHD) for a long-term period. Patients had very good survival of native forearm arteriovenous fistula access, and upper arm access with superficialized basilic vein. One access survived 18 years: 8 years on standard hemodialysis (STND-HD) and 10 years on D-HD. Only two fistulas failed. Blood pressure control in 12 hypertensive patients was obtained without antihypertensive drugs in 8 and with fewer medications in 4. Hematocrit and hemoglobin improved in all patients. Cardiothoratic index decreased in all patients, and we noticed a reduction in the most important echocardiographic indices in 12 patients with cardiac hypertrophy: intraventricular septum thickness, left ventricle posterior wall thickness, left ventricle internal diastolic diameter, and left atrium diameter. Data also showed improvement in nutritional status. For the most part, the levels of hormones normalized, with regular menstrual cycles in women and good sexual function in men. In our experience both elderly and young patients with severe cardiovascular diseases, severe hypertension or hypotension, anemia, and nutritional problems can, with D-HD, achieve good quality of life and start work again. D-HD, in our opinion, is the treatment of choice for patients without comorbid conditions, because good metabolic control, good nutrition, and a more normal hormonal status allow them to feel well and to have an almost normal lifestyle.

BF is a dialytic procedure employing the new AN69 polyacrylonitrile membrane, which is more permeable to both water and solutes than the traditional AN69. A postdilutional bicarbonate infusion is necessary in BF. The treatment time is 3 hours. Six patients, previously on regular acetate (HD) or bicarbonate dialysis (BHD) with AN69 were treated for 18 months with BF. Biochemical and hematological parameters (BUN, creatinine, uric acid, CA, P, K, Na, blood pH, HCO3, hematocrit) and clinical signs were evaluated in BF, and compared to those of HD and BHD. An improvement in biochemical and hematological parameters accompanied by better clinical signs was seen in BF as compared to HD and BHD. In our opinion this is due both to better removal of small and middle molecules and the bicarbonate infusion, and to the shorter dialytic session.