Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.

P450scc deficiency due to CYP11A1 gene mutations is a rare cause of primary adrenal insufficiency (PAI) in children. We reported two young siblings with PAI presented with hyperpigmentation. They were referred to our clinic with a diagnosis of familial glucocorticoid deficiency (FGD), another rare cause of PAI. However, further hormonal evaluation revealed increased plasma renin activity, which was not congruent with the diagnosis of FGD. Genetic analysis showed the compound heterozygous mutations in exon 8 of the CYP11A1 gene, including a missense mutation, R466W (c1396C>T), and a nonsense mutation, R439X (c1315C>T). A case responded well to hydrocortisone, while another case received prednisolone due to her unresponsiveness to hydrocortisone. To correctly diagnose P450scc deficiency, physicians should be alerted with the similarity between this disease and FGD because of their predominant glucocorticoid deficiency. Long-acting glucocorticoids may be used with caution to reach treatment goals.

Atypical gnathostomiasis-confirmed cutaneous larva migrans, Vietnam.

We reported a case of gnathostomiasis in a 42-year-old woman with an unclear history of eating high-risk foods and had a non-migratory skin lesion, negative serological testing and normal blood eosinophil counts. A diagnosis of gnathostomiasis was based on a live, third-stage Gnathostoma spinigerum larva that was randomly taken from the patient's skin lesion by herself. The presenting case report demonstrates challenges in correctly diagnose cutaneous gnathostomiasis even in endemic countries due to atypical skin lesions, negative serology testing and the absence of eosinophilia and thus, the widely used classic triad of suggestive evidence of gnathostomiasis is not fulfilled.

An investigation of an outbreak of hepatitis C virus infections in a low-resourced hemodialysis unit in Vietnam.

BACKGROUND: Hepatitis C virus (HCV) is a risk for all hemodialysis patients. Over a 2-month period in 2013, there were 11 HCV seroconversions at a satellite hemodialysis unit in Vietnam. We report the epidemiologic investigation of the transmission mode in the absence of unavailable phylogenetic analysis. METHODS: The outbreak occurred during a 2-year dynamic cohort study. All patients were tested every 2 months, and staff was tested annually for hepatitis B virus surface antigen and HCV core antigen. Cases were tested for viral genotypes to examine the genetic relationship. Direct observation of the patient care environment was performed, and infection control policy was reviewed for potential breaches. Data obtained during the cohort study were used to assess lifestyle and treatment-related risk factors for the incidence of HCV infection. RESULTS: All patients reused dialyzers and shared hemodialysis machines. One reprocessing system was used to rinse used dialyzers. The preparation area for parenteral medication and clean supplies was adjacent to the blood sample handling area and storage of reused dialyzers. HCV transmission through a shared machine was the likely mode of transmission in 1 of the 11 cases. Indirect contact transmission was the likely mode of HCV transmission for the remaining 10 cases. CONCLUSIONS: Sharing hemodialysis machines was not the main risk factor for the outbreak, which was most likely caused by environmental contamination associated with infection control breaches. The outbreak highlights the importance of providing dedicated dialyzer reprocessing systems and strict adherence to infection control precautions to prevent HCV cross-contamination.

Challenges of hemodialysis in Vietnam: experience from the first standardized district dialysis unit in Ho Chi Minh City.

BACKGROUND: Hemodialysis is an increasingly common treatment in Vietnam as the diagnosis of end stage renal disease continues to rise. To provide appropriate hemodialysis treatment for end-stage renal disease patients, we conducted a 1-year cross-sectional study to measure the prevalence of bloodborne infection and factors associated with non-compliant behaviors in hemodialysis patients. METHODS: One hundred forty-two patients were tested for hepatitis B virus (HBV) surface antigen and hepatitis C virus (HCV) core antigen. They provided demographic, medical and dialysis information. Non-compliant behaviors were obtained from their medical records. RESULTS: Overall, 99 % of patients reused their dialyzers and 46 % had arteriovenous fistula on admission. Both HBV and HCV equally accounted for 8 % of patients and concurrent infection accounted for 1 %. Non-compliance rates of dietary and medication were 39 and 27 % respectively. 42 % of patients missed hemodialysis session, 8 % were verbally or physically abusive and 9 % were non-cooperative. Of the 54 % catheterized patients, 7 % improperly cared for their dialysis access. Dietary non-adherence was associated with male patients (p = 0.03) and medication non-adherence was associated with younger age (p = 0.05). Duration between diagnosis of chronic kidney disease and initiation of hemodialysis was associated with improper care of dialysis access (p = 0.04). Time on hemodialysis was associated with missed hemodialysis session (p = 0.007) and verbal or physical abuse (p = 0.01). CONCLUSION: Health services need to provide safe practice for dialyzer reuse given the endemicity of hepatitis. We believe a national survey similar to ours about seroprevalence and infection control challenges would prepare Vietnam for providing safer satellite treatment units. Safe hemodialysis services should also comprise patient preparedness, education and counseling.

Hepatitis B and C virus infections among patients with end stage renal disease in a low-resourced hemodialysis center in Vietnam: a cross-sectional study.

BACKGROUND: Hemodialysis services in Vietnam are being decentralised outside of tertiary hospitals. To identify the challenges to infection control standards for the prevention of bloodborne infections including hepatitis B virus (HBV) and hepatitis C virus (HCV) we tested the magnitude of HBV and HCV infections in the largest unit in Ho Chi Minh City servicing patients with end stage renal disease. METHODS: All 113 patients provided consent HBV surface antigen (HBsAg) and HCV core antigen (HCV-coreAg) testing. Positive patients were tested for viral genotypes. All participants completed a questionnaire on demographic characteristics, risk factors and previous attendance to other hemodialysis units. RESULTS: Seroprevalence of 113 patients enrolled was 7% (8/113, 95% CI 2.3%-11.8%) HBsAg, 6% (7/113, 95% CI 1.7%-10.6%) HCV-coreAg and 1% (1/113, 95% CI 0.8%-2.6%) co-infection. Having a HBV positive sexual partner significantly increased the risk of acquiring HBV (P = 0.016, Odds Ratio (OR) =29, 95% CI 2-365). Risk factors for HCV included blood transfusion (P = 0.049), multiple visits to different hemodialysis units (P = 0.048, OR = 5.7, 95% CI 1.2-27.5), frequency of hemodialysis (P = 0.029) and AST plasma levels >40 IU/L (P = 0.020, OR = 19.8, 95% CI 2.3-171). On multivariate analysis only blood transfusion remained significant risk factor for HCV (P = 0.027, adjusted OR = 1.2). CONCLUSIONS: HCV screening for HCV of blood products must improve to meet the infection prevention challenges of decentralizing hemodialysis services. The level of HCV and HBV in our hemodialysis unit is a warning that universal precautions will be the next challenge for decentralised hemodialysis services in Vietnam.