Case Report: A Novel Mutation Leading to 11-ß Hydroxylase Deficiency in a Female Patient.

BACKGROUND: 11ß hydroxylase deficiency (11ßOHD) ranks as the second most common enzyme deficiency that causes congenital adrenal hyperplasia. Depending on the severity of the enzyme deficiency, it can lead to cortisol deficiency, androgen excess and hypertension due to increased mineralocorticoid precursor levels. Many different types of mutations in the CYP11B1 gene located on chromosome 8q24.3 have been shown to cause 11ßOHD. Here, we report a novel missense mutation that leads to 11ßOHD in a female patient. CASE PRESENTATION: A 35-year-old female patient was admitted to the Endocrinology Department with a complaint of abdominal pain. The patient had a history of genital reconstruction surgery twice in childhood. On physical examination, an abdominal mass was detected. Laboratory examination of the patient revealed low levels of cortisol, potassium and high levels of ACTH, 11-deoxycortisol and androstenedione, suggesting 11ßOHD. Genotyping showed a novel homozygous missense mutation (c.1385T>C L462P variant) detected on the 8th chromosome where the CYP11B1 gene is located. Glucocorticoid therapy was commenced for the patient whose diagnosis of 11ßOHD was confirmed by both hormonal and genetic tests. A mass originating from the left adrenal gland with the largest diameter of 7 cm was compatible with myelolipoma. CONCLUSION: In this case report, we aimed to contribute to the literature by reporting a new missense mutation in the CYP11B1 gene, leading to classic type 11ßOHD that has not been described before.

Evaluation of Clinical, Laboratory and Treatment Modalities in C3 Glomerulopathy: Single Center Experience.

BACKGROUND/AIM: C3 glomerulopathy (C3GP) defines a rare group of glomerulonephritis (GN), which could lead to end stage renal disease (ESRD). Histopathologic features of the disease have yet to be defined and the prognostic factors and optimal treatment are not fully known. The purpose of this study was to determine the demographic, histological change, treatment modalities and outcomes among patients with C3GP. MATERIAL AND METHOD: This retrospective observational study was conducted in the Department of Nephrology, Gazi University, Ankara, from 2013 to 2017. All patients with kidney biopsies fulfilling the criteria for C3GP were included in the study. RESULTS: Twenty-four patients with C3GP (50% male and of middle age - 43 years old) were enrolled in this study. 21% (5/24) patients developed ESRD. Renal biopsy findings such as crescent formation, glomerulo-sclerosis and tubular atrophy were similar in patients with ESRD, when compared to patients who did not develop ESRD. The treatment modalities of the patients were examined in two groups as MMF based and non-MMF based. The difference in the preservation of eGFR did not reach statistical significance between these two groups. The success rate of complete remission was similar between both groups. Serum creatinine levels >2.3 mg/dl at admission and need for renal replacement treatment (RRT) were associated with decreased renal survival. CONCLUSION: MMF based or non-MMF based treatments have similar efficacy in C3GP. Serum creatinine level higher than 2.3 mg/dl at the time of diagnosis and need for RRT during admission are a strong predictor of ESRD with high sensitivity and specificity.

Tenofovir-best hope for treatment of chronic hepatitis B infection?

BACKGROUND/AIMS: To evaluate the effectiveness of tenofovir in patients with chronic hepatitis B infection in a real life setting. MATERIALS AND METHODS: We performed a retrospective analysis of data from 164 patients with chronic hepatitis B who were treated with Tenofovir. Eighty-six patients (52.4%) were naïve. Seventy-seven (46.9%) patients were previously treated with anti-viral drugs, including standard interferon (n=4), pegylated (PEG) interferon (n=14), standard interferon together with lamivudine (n=13), lamivudine alone (n=41), adefovir (n=2), lamivudine together with adefovir (n=1), and entecavir (n=2). Six patients (3.7%) had liver cirrhosis before treatment of tenofovir. RESULTS: The patients who have hepatitis B viral DNA>104 copy/mL with chronic hepatitis B infection were included in the treatment of Tenofovir. Average follow up time was 30.31±14.33 months. HBV DNA negativity and alanine aminotransferase (ALT) normalization were 86.5% and 71.3%, respectively, at the last visit. Hepatitis B e-Antigen (HBeAg) seroconversion occurred in 11 (19.6%) out of 164 patients. During the follow-up period, 4 (2.4%) patients developed liver cirrhosis and in 5 (3%) patients hepatocellular carcinoma (HCC) occurred out of 164 patients. HBsAg seroconversion occurred in one patient (0.6%). CONCLUSION: Tenofovir can be used safely and successfully in those patients that were naive, experienced with immune modulators and/or antivirals, HBeAg-positive, and HBeAg-negative patients.