IgA Deficiency and membranoproliferative glomerulonephritis: a case report

Background: Immunoglobulin A deficiency (IgAD) is the most common form of primary immunodeficiency in western countries. It can be associated with the development of autoimmune diseases both in adults and in children even though the exact pathophysiology is not fully defined. Case Presentation: We report here a case of a young patient who developed nephrotic syndrome secondary to membranoproliferative glomerulonephritis associated with the incidental finding of IgAD. We began corticosteroid therapy and angiotensin-converting enzyme inhibitor, and we observed partial remission of the nephrotic syndrome after about nine months; nonetheless, in the following follow-up visits, a progressive decline of renal function was found. Conclusion: Our case extends the spectrum of hitherto described glomerulonephritides associated with IgAD which were described until now

Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene

Microvillous inclusion disease (MVID) typically appears with severe chronic diarrhea in the few days after birth and rapidly causes dehydration and metabolic acidosis. In this context, presenting two novel cases, we underline the crucial importance of mutation analysis for the diagnosis of this disease that may be easily misdiagnosed

Placental Expression of CD100, CD72 and CD45 Is Dysregulated in Human Miscarriage

CONTEXT AND OBJECTIVE: The etiology of miscarriage is often multifactorial. One major cause, immunological rejection of the fetus, has not been clearly elucidated. Our aim was to establish whether the semaphorin CD100, its natural receptor CD72, and the glycoprotein CD45, implicated in immune mechanisms, are involved in pregnancy loss by examining their placental expression with real-time PCR, immunohistochemistry and western blotting techniques. PATIENTS: Placenta tissue from 72 Caucasian women undergoing surgical uterine evacuation due to early spontaneous pregnancy loss between the 8(th) and 12(th) week of gestation was divided into four groups based on miscarriage number. Gestational age-matched placentas from 18 healthy women without a history of miscarriage undergoing voluntary pregnancy termination were the control group. Placenta from 6 Caesarean deliveries performed at 38-40 weeks of gestation was also studied. RESULTS: CD100, CD72 and CD45 were expressed in placenta and exhibited different mRNA and protein levels in normal pregnancy and miscarriage. In particular, protein levels were highly dysregulated around 10 weeks of gestation in first and second miscarriage placentas. The CD100 soluble form was produced and immediately shed from placental tissue in all samples. CONCLUSIONS: Fetal CD100, CD72 and CD45 seem to play a role in miscarriage. The present data support the involvement of the fetal immune system in pregnancy maintenance as well as failure

Case report: optic atrophy and nephropathy with m.13513G>A/MT-ND5 mtDNA pathogenic variant

Isolated complex I deficiency represents the most common mitochondrial respiratory chain defect involved in mitochondrial disorders. Among these, the mitochondrial DNA (mtDNA) m.13513G>A pathogenic variant in the NADH dehydrogenase 5 subunit gene (MT-ND5) has been associated with heterogenous manifestations, including phenotypic overlaps of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, Leigh syndrome, and Leber’s hereditary optic neuropathy (LHON). Interestingly, this specific mutation has been recently described in patients with adult-onset nephropathy. We, here, report the unique combination of LHON, nephropathy, sensorineural deafness, and subcortical and cerebellar atrophy in association with the m.13513G>A variant

Possible role of placental CD100, CD72 and CD45 molecules in human miscarriage

The precise mechanism for recurrent miscarriage is unclear. A lot of metabolic alterations are involved in the missed intercommunication between mother and its foetus, causing their reciprocal intolerance. The identification of new molecules involved in pregnancy loss represents the main objective of our study. We analysed the semaphorin CD100, its natural receptor CD72 and the glycoprotein CD45, physically and functionally associated to CD100 in the placental tissues from recurrent miscarriages by real-time PCR, western blotting and immunohistochemistry. Placental tissue was obtained during surgical uterine evacuation in 72 caucasian women with early spontaneous pregnancy loss between 8th and 12th week of gestation and classified in four groups defined as first, second, third and fourth miscarriages. Other two normal placental groups were recruited: a) first trimester placentas (n = 18), matched for gestational age with placentas from spontaneous pregnancy loss; b) third trimester placentas (n = 6) at 38-40 weeks of gestation. We demonstrated that CD72, CD45 and CD100 mRNA were detectable in placental tissues with different expression in normal and pathological conditions. In addition, we demonstrated that CD72 and CD45 molecules were expressed in foetal macrophages and that their protein levels were especially deregulated in first and second miscarriages at about 10 weeks of gestation. On the contrary, CD100 cleaved protein appeared to be absent in placenta. In conclusion, our findings underline a possible role for CD100, CD72 and CD45 molecules in recurrent miscarriages, showing an important foetal involvement in the occurring of pregnancy loss