Association between basal proteinuria levels and pregnancy outcomes in familial Mediterranean fever.

We aimed to investigate whether proteinuria in the first trimester of pregnancy in Familial Mediterranean fever (FMF) patients has an impact on pregnancy outcome and perinatal and neonatal outcome of pregnancies. A total of 66 pregnant with FMF were compared with healthy controls at the same gestational weeks. Patients with FMF had a higher antenatal hospitalisation rate (34.8% vs. 6.1%, respectively, p < .01) and higher rate of 2 or more miscarriages. FMF patients with or without obstetric complications also had a similar amount of 24-h urine proteinuria in the first trimester. Patients on colchicine therapy during pregnancy had more frequent attacks in pregnancy (59.3% vs. 18.2%, respectively, p: .012). The rates of preeclampsia, preterm delivery, foetal anomalies, small for gestation age neonates and primary caesarean rate were similar between groups. In conclusion; FMF had no significant impact on pregnancy. Neither attacks in pregnancy nor basal proteinuria were associated with adverse outcomes.Impact statementWhat is already known on this subject? Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by inflammation of the serosal, synovial and cutaneous tissues with recurrent attacks. One of the most serious complications of FMF is amyloidosis that can cause end-stage renal disease. Outcomes of FMF on pregnancy have been analysed by only few studies. Amyloidosis based on the initial renal function may adversely affect pregnancies. It has been reported that FMF patients with renal amyloidosis may suffer pregnancy complications to a greater extent.What do the results of this study add? There have been few studies on the correlation between FMF, proteinuria and pregnancy outcomes. In our study we found that FMF had no significant impact on pregnancy. Neither attacks in pregnancy nor basal proteinuria were associated with adverse outcomes.What are the implications of these findings for clinical practice and/or further research? Our study suggested that FMF had no relationship between pregnancy outcomes. However, our study population is relatively small. It will contribute to comprehensive studies involving a larger population. Future studies should be performed to investigate the effects of basal proteinuria in pregnancy with FMF.

An abdominal wall mass of exogenous insulin amyloidosis in setting of metastatic sarcoma.

Exogenous insulin amyloidosis (AIns) is an iatrogenic form of amyloidosis which is found in diabetic patients, generally localized to the site of subcutaneous insulin administration. It may form a discrete mass that could come to clinical attention, and can contribute to abnormal pharmacokinetics of the exogenous insulin, resulting in worsened control of diabetes. In this case report, we describe such a lesion in a 72-year-old man with a history of type 2 diabetes and primary adrenal gland epithelioid sarcoma and discuss the diagnostic challenges it poses.

Mucosa nasal: un nuevo tejido para el diagnóstico biópsico de amiloidosis hereditaria relacionada con transtirretina / Nasal mucosa: A new site for tissue biopsy to diagnose hereditary TTR amyloidosis

Background and objective: We report 2 carriers of the TTRV30M mutation and its plasmatic biochemical marker with clinical symptoms compatible with hereditary TTR amyloidosis. Materials and methods: Based on our previously reported casual finding of amyloid TTR in nasal mucosa (2008), we requested biopsy of this tissue to search for amyloid with Congo red staining and TTR immunohistochemical analysis. Results: The histological diagnosis was achieved by retrospective analysis of surgical sinonasal biopsy in the first patient and prospective biopsy of inferior nasal concha in the second. Large interstitial deposits of ATTR were observed in both cases. Conclusions: We suggest nasal mucosa as a suitable site for tissue biopsy in patients with suspected hereditary TTR amyloidosis (AU)

Antecedentes y objetivo: Presentamos 2 portadores de la mutación TTRV30M y su marcador bioquímico plasmático, con síntomas sugestivos de amiloidosis hereditaria TTR. Material y métodos: Basándonos en el hallazgo casual de amiloide TTR en la mucosa nasal previamente publicado (2008), indicamos la biopsia de este tejido para la búsqueda de amiloide TTR con tinción Rojo Congo y análisis inmunohistoquímico de TTR. Resultados: El diagnóstico histológico se logró en el primer enfermo con análisis retrospectivo de la biopsia de material operatorio sinonasal, y en el segundo con biopsia prospectiva del cornete nasal inferior. En ambos casos se observaron grandes depósitos intersticiales de amiloide de amiloidosis hereditaria relacionada con transtirretina. Conclusiones: Consideramos que la biopsia de la mucosa nasal es idónea para el diagnóstico de pacientes con sospecha de amiloidosis hereditaria TTR (AU)

Familial Takayasu arteritis in a mother and daughter. A report of two cases.

Takayasu arteritis (TA) is a chronic granulomatous panarteritis, predominantly affecting the aorta and its main branches. Infections, genetic factors as suggested by familial clustering, and autoimmunity may play a role in its pathogenesis. In this report, we describe familial TA in a mother and daughter with diverse clinical manifestations. In addition to being a familial form of vasculitis, both of our cases demonstrated amyloidosis, chronic renal disease thought to be due to ischemic nephropathy, and hypertensive nephrosclerosis.