Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?

Objective: We report a case of Carmi Syndrome in a neonate. Aim: To share our lessons in diagnosis of the case of Carmi Syndrome. Case Report: Carmi Syndrome is an extremely rare autosomal recessive genetic disorder characterized the coexistence of pyloric atresia and junctional epidermolysis bullosa, and with aplasia cutis congenita in approximately 28% patients. In this case, a full-term male neonate was born to a G4P2+1L1 multipara through cesarean section delivery in hospital in a non-consanguineous marriage with 4000mL of II°meconium-stained amniotic fluid. He was found extensive skin loss over lower legs and other parts, with scattered blisters and bilateral microtia. Plain abdominal X-ray revealed a large gastric air bubble with no gas distally. The mother had an intrauterine fetal loss previously for reasons unknown. The dermatologist diagnosed the newborn with Bart Syndrome, while the pediatric surgeon diagnosed congenital pyloric atresia(CPA). The parents refused further treatment and the neonate passed away about 30 hours after birth. Outcome: The neonate passed away about 30 hours after birth. Conclusion: Lessons from this case:①.Rule out Carmi Syndrome in patients with PA, and differentiate Bart syndrome and Carmi Syndrome in patients with abnormal skin manifestations. ②. For rare and/or severe diseases, multidisciplinary teams(MDTs) should be establish. ③. Genetic counseling and prenatal diagnosis are necessary prior to subsequent childbearings. ④.Termination of pregnancy might be contemplated if certain indicators are revealed.

Role of OATP1B3 in the transport of bile acids assessed using first-trimester trophoblasts.

AIMS: The aim of this study was to investigate the transport of two kinds of bile acids by organic anion transporting polypeptide 1B3 (OATP1B3) using first-trimester trophoblasts. The mechanisms of damage to fetuses with intrahepatic cholestasis of pregnancy were investigated, providing new potential strategies for targeted therapies aimed at reducing fetal risk. MATERIAL AND METHODS: The expression of OATP1B3 was knocked down by lentiviral vector-mediated RNA interference, and silencing efficiency was assessed using real-time polymerase chain reaction and Western blotting. The cytotoxicity of two bile acids (glycocholic acid [GCA] and glycochenodeoxycholic acid [GCDCA]) was assessed using the MTT method. Transport of bile acids was assessed by establishing an in vitro trophoblast monolayer model using polyester Transwell-clear inserts, and the concentration of bile acids in the upper compartment was assessed using high-pressure liquid chromatography. RESULTS: GCA and GCDCA (10 and 20 µM) were not cytotoxic to the SWAN cell line (P > 0.05). RNAi treatment decreased the mRNA and protein expressions of OATP1B3 by 94.42% and 49.51%, respectively (P < 0.05). The bile acid transport curves were similar in the control and negative RNAi groups, whereas those in the RNAi group differed significantly from those in the control and negative RNAi groups. The concentration of GCA and GCDCA in the upper compartment was significantly lower in the RNAi group than in the control and negative RNAi groups. CONCLUSIONS: OATP1B3 expression in trophoblasts was confirmed indirectly by its ability to transport the bile acids GCA and GCDCA.