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Spada M.,University of Turin | Calvo P.L.,University of Turin | Brunati A.,Liver Transplant Center | Peruzzi L.,Dialysis and Transplantation Unit | And 3 more authors.
Pediatrics | Year: 2015

With conventional dietary treatment, the clinical course of methylmalonic acidemia due to cobalamin-unresponsive methylmalonyl-CoA mutase (MCM) deficiency is characterized by the persistent risk of recurrent life-threatening decompensation episodes with metabolic acidosis, hyperammonemia, and coma. Liver transplant has been proposed as an alternative treatment and anecdotally attempted in the last 2 decades with inconsistent results. Most criticisms of this approach have been directed at the continuing risk of neurologic and renal damage after transplant. Here, we report the perioperative and postoperative clinical and biochemical outcomes of 2 patients with severe MCM deficiency who underwent early liver transplant. In both cases, liver transplant allowed prevention of decompensation episodes, normalization of dietary protein intake, and a marked improvement of quality of life. No serious complications have been observed at 12 years' and 2 years' follow-up, respectively, except for mild kidney function impairment in the older patient. On the basis of our experience, we strongly suggest that liver transplant should be offered as a therapeutic option for children with cobalamin-unresponsive MCM deficiency at an early stage of the disease. © 2015 by the American Academy of Pediatrics. Source

Mazzucco G.,University of Turin | Colla L.,Dialysis and Transplantation Unit | Monga G.,University of Piemonte Orientale
American Journal of Kidney Diseases | Year: 2011

We report a 42-year-old woman who presents a few days after a spontaneous incomplete abortion at the ninth week of pregnancy with hypertension and nephrotic syndrome. Curettage findings and increased values for the β subunit of human chorionic gonadotrophin were suspicious for a trophoblastic disease. A uterine placental site trophoblastic tumor was diagnosed 2 months later after hysterectomy and treated successfully using chemotherapy. Kidney biopsy showed features consistent with an unusual form of thrombotic microangiopathy characterized by the presence of large thrombus-like structures occluding the capillary lumina and smaller aggregates in the mesangium and along glomerular basement membranes. These deposits were positive for immunoglobulin M, C4, C1q, κ and λ light chains, and fibrinogen. Electron microscopy showed fibrin deposits located primarily in the subendothelial space. The differential diagnosis of this presentation included pre-eclamptic nephropathy, Waldenström disease, lupus anticoagulant glomerulonephritis, systemic lupus erythematosus, and cryoglobulinemic glomerulonephritis. We review the pathogenic mechanisms involved in this case. © 2011 National Kidney Foundation, Inc. Source

Catalano C.,Dialysis and Transplantation Unit
BMJ case reports | Year: 2011

The authors report the case of a 33-year-old Italian man who had three episodes of hypokalaemia with paralysis linked to hyperthyroidism. Because of its low prevalence in western populations, the diagnosis of thyrotoxic hypokalaemic periodic paralysis can be easily missed in non-Asian countries. Source

Signorini L.,University of Milan | Belingheri M.,Dialysis and Transplantation Unit | Ambrogi F.,University of Milan | Pagani E.,Laboratory of Microbiology and Virology | And 7 more authors.
Journal of Clinical Virology | Year: 2014

Background: Polyomavirus (PyV) infection is common, ranging from 60% to 100% depending on the virus. The urinary excretion rates of JC virus (JCV) and BK virus (BKV) have been extensively studied, but less is known about the more recently discovered PyVs. Objectives: To investigate the urinary excretion of Merkel cell PyV (MCPyV), which is associated with Merkel cell carcinoma (MCC), in kidney transplant recipients and healthy subjects, as well as those of lymphotropic polyomavirus (LPV), which was isolated from the B-cells of African green monkeys but has also been found in human blood, JCV and BKV. Study design: Urine samples were collected from 62 adult (ATP) and 46 pediatric (PTP) kidney transplant recipients and from 67 adult (AHC) and 40 pediatric (PHC) healthy controls. DNA was isolated and analyzed using real-time PCR (Q-PCR) to determine the viral loads of MCPyV, LPV, JCV and BKV. Results: MCPyV DNA was more frequently detected (p<. 0.05) in the PTP (36.9%) and PHC (30.0%) groups compared to JCV (8.7% in PTP, 12.5% in PHC), BKV (6.5% in PTP, 2.5% in PHC), and LPV (2.2% in PTP, 5% in PHC) and in the AHC (47.8%) group compared to BKV (13.4%) and LPV (0%). Conclusions: Based on the results, it could be concluded that: (a) Despite the rarity of MCC, MCPyV is a common infection; (b) MCPyV demonstrates an excretion pattern similar to those of JCV and BKV, persisting in the kidney and infecting skin cells upon reactivation, with subsequent integration and transformation. © 2014 Elsevier B.V. Source

Coppo R.,Dialysis and Transplantation Unit | Davin J.-C.,University of Amsterdam | Davin J.-C.,Free University of Brussels
Pediatric Nephrology | Year: 2015

The need for an early diagnosis of primary IgA nephropathy (IgAN) is particularly felt in children since they have a long life expectancy. However, IgAN has a slowly progressive course and renal function can even remain unchanged for decades. The long-term predictive value of modifiable risk factors, such as proteinuria and proliferative/ inflammatory lesion at renal biopsy, remains unknown. Interest has focused on crescents, which represent a clear risk factor for renal vasculitides. A number of rare cases of extracapillary IgAN involving >40 % of glomeruli have been reported, but in most cases of IgAN crescents involve <10 % of glomeruli. The long-term effect of small noncircumferential crescents detected by chance or without a clinical picture of progressive IgAN is still unknown. The Oxford study failed to find a predictive value of crescents in either children or adults, and these results were confirmed by the recent VALIGA study on 1,147 patients with IgAN (174 children). A recent study reports a correlation between the time elapsed from the diagnosis of urinary abnormalities and renal biopsy which suggests that crescents are associated with disease onset and then likely undergo a healing process into sclerotic lesions, which are commonly detected in biopsies performed years after onset. The authors of this study propose that primary IgAN may have similarities with Henoch– Schoenlein purpura nephritis, which presents with acute glomerular damage, mesangial proliferation, endocapillary leucocyte infiltration and crescent formations, and that these lesions can undergo resolution with sclerotic healing. This hypothesis is highly suggestive of the silent progression of several cases of IgAN without clear clinical changes, stressing once more the need for a combined clinical and pathological evaluation of children with IgAN that considers both the underlying pathogenetic event and its possible evolution. © 2014, IPNA. Source

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