Transthyretin familial amyloid polyneuropathies (TTR-FAPs) are autosomal dominant neuropathies of fatal outcome within 10 years after inaugural symptoms. Late diagnosis in patients who present as nonfamilial cases delays adequate management and genetic counseling. Clinical data of the 90 patients who presented as nonfamilial cases of the 300 patients of our cohort of patients with TTR-FAP were reviewed. They were 21 women and 69 men with a mean age at onset of 61 (extremes: 38 to 78 years) and 17 different mutations of the TTR gene including Val30Met (38 cases), Ser77Tyr (16 cases), Ile107Val (15 cases), and Ser77Phe (5 cases). Initial manifestations included mainly limb paresthesias (49 patients) or pain (17 patients). Walking difficulty and weakness (five patients) and cardiac or gastrointestinal manifestations (five patients), were less common at onset. Mean interval to diagnosis was 4 years (range 1 to 10 years); 18 cases were mistaken for chronic inflammatory demyelinating polyneuropathy, which was the most common diagnostic error. At referral a length-dependent sensory loss affected the lower limbs in 2, all four limbs in 20, and four limbs and anterior trunk in 77 patients. All sensations were affected in 60 patients (67%), while small fiber dysfunction predominated in the others. Severe dysautonomia affected 80 patients (90%), with postural hypotension in 52, gastrointestinal dysfunction in 50, impotence in 58 of 69 men, and sphincter disturbance in 31. Twelve patients required a cardiac pacemaker. Nerve biopsy was diagnostic in 54 of 65 patients and salivary gland biopsy in 20 of 30. Decreased nerve conduction velocity, increased CSF protein, negative biopsy findings, and false immunolabeling of amyloid deposits were the main causes of diagnostic errors. We conclude that DNA testing, which is the most reliable test for TTR-FAP, should be performed in patients with a progressive length-dependent small fiber polyneuropathy of unknown origin, especially when associated with autonomic dysfunction.

Ferreira AC, Nolasco F, Carvalho D, Sampaio S, Baptista A, Pessegueiro P, Monteiro E, Mourão L, Barroso E. Impact of RIFLE classification in liver transplantation.
Clin Transplant 2010: 24: 394–400. © 2009 John Wiley & Sons A/S. Abstract:  Acute renal failure (ARF) is common after orthotopic liver transplantation (OLT). The aim of this study was to evaluate the prognostic value of RIFLE classification in the development of CKD, hemodialysis requirement, and mortality. Patients were categorized as risk (R), injury (I) or failure (F) according to renal function at day 1, 7 and 21. Final renal function was classified according to K/DIGO guidelines. We studied 708 OLT recipients, transplanted between September 1992 and March 2007; mean age 44 ± 12.6 yr, mean follow‐up 3.6 yr (28.8%≥5 yr). Renal dysfunction before OLT was known in 21.6%. According to the RIFLE classification, ARF occurred in 33.2%: 16.8% were R class, 8.5% I class and 7.9% F class. CKD developed in 45.6%, with stages 4 or 5d in 11.3%. Mortality for R, I and F classes were, respectively, 10.9%, 13.3% and 39.3%. Severity of ARF correlated with development of CKD: stage 3 was associated with all classes of ARF, stages 4 and 5d only with severe ARF. Hemodialysis requirement (23%) and mortality were only correlated with the most severe form of ARF (F class). In conclusion, RIFLE classification is a useful tool to stratify the severity of early ARF providing a prognostic indicator for the risk of CKD occurrence and death.

Introduction. ABO-incompatible liver transplantation (ABOi LT) is considered to be a rescue option in emergency transplantation. Herein, we have reported our experience with ABOi LT including long-term survival and major complications in these situations. Patient and Methods. ABOi LT was performed in cases of severe hepatic failure with imminent death. The standard immunosuppression consisted of basiliximab, corticosteroids, tacrolimus, and mycophenolate mofetil. Pretransplantation patients with anti-ABO titers above 16 underwent plasmapheresis. If the titer was above 128, intravenous immunoglobulin (IVIG) was added at the end of plasmapheresis. The therapeutic approach was based on the clinical situation, hepatic function, and titer evolution. A rapid increase in titer required five consecutive plasmapheresis sessions followed by administration of IVIG, and at the end of the fifth session, rituximab. Results. From

Neurocognitive disorders are frequent among chronic kidney disease (CKD) patients. Identifying and characterizing cognitive impairment (CI) can help to assess the ability of adherence to CKD risk reduction strategy, identify potentially reversible causes of cognitive decline, modify pharmacotherapy, educate the patient and caregiver and provide appropriate patient and caregiver support. Numerous factors are associated with the development and progression of CI in CKD patients and various conditions can influence the results of cognitive assessment in these patients. Here we review clinical warning signs that should lead to cognitive screening; conditions frequent in CKD at risk to interfere with cognitive testing or performance, including specificities of cognitive assessment in dialysis patients or after kidney transplantation; and available tests for screening and observed cognitive patterns in CKD patients.

CG is a rare podocytopathy. In this study, the association between infection and CG is evident, and we may suggest that infections could, in a direct or indirect manner, be a trigger of podocyte injury.

Renal failure due to leukemic infiltration of kidney in chronic lymphocytic leukemia is an extremely rare condition. The authors report a case of a 59-year-old white female, with a past medical history of chronic lymphocytic leukemia (CLL) with 2 years of evolution without medical therapy, admitted with nonoliguric acute renal failure needing dialysis. Renal biopsy showed extensive small lymphocytes' infiltration in the cortical interstitium by CLL cells. Cyclophosphamide and prednisolone were started and 1 month later changed to fludarabine plus cyclophosphamide with improvement of renal function. Although renal failure due to leukemic infiltration has been described in many cases of acute leukemia, only 11 cases of renal failure due to CLL cells' infiltration have been described in the literature. Renal histology is an extremely important tool to confirm diagnosis.

Persistent post-partum glucose metabolism disorders are frequent in women with GDM and associated with lower maternal educational level. Interventions aimed at this risk group may contribute towards a decrease in prevalence of post-partum glucose metabolism disorders.

Chronic kidney disease-mineral and bone disorder has been associated with increasing morbid-mortality. The aim of this study was to determine the prevalence and phenotype of bone disease before transplantation and to correlate FGF23 and sclerostin levels with bone histomorphometry, and study possible associations between FGF23, sclerostin, and bone histomorphometry with cardiovascular disease and mortality. We performed a cross-sectional cohort study of a sample of 84 patients submitted to renal transplant, which were prospectively followed for 12 months. Demographic, clinical, and echocardiographic data were collected, laboratory evaluation, bone biopsy, and X-ray of the pelvis and hands were performed. Patient and graft survival were recorded. We diagnosed low bone turnover in 16 patients (19.5%); high bone turnover in 22 patients (26.8%); osteomalacia in 1 patient (1.2%), and mixed renal osteodystrophy in 3 patients (3.7%). At the end of 12 months, 5 patients had graft failure (5.9%), 4 had a cardiovascular event (4.8%), and 4 died. Age was associated with low remodeling disease, whereas high BALP and phosphorus and low sclerostin with high turnover disease. Sclerostin was a risk factor for isolated low bone volume. High BALP, low phosphorus, and low FGF23 were risk factors for abnormal mineralization. FGF23 appears as an independent factor for severity of vascular calcifications and for cardiovascular events, whereas the presence of valve calcifications was associated with low volume and with turnover deviations. Sclerostin was associated a higher HR for death. Sclerostin and FGF23 seemed to provide higher cardiovascular risk, as well as low bone volume, which associated with extra-osseous calcifications.