RESUMEN
This case report is about one genetically specified diagnosed infant case of Caroli syndrome with autosomal recessive polycystic kidney disease (ARPKD) in China. The patient in this case report was an eight-month infant boy with an atypical onset and the main clinical manifestation was non-symptomatic enlargement of the liver and kidneys. The imaging study demonstrated a diffused cystic dilatation of intrahepatic bile ducts as well as polycystic changes in bilateral kidneys. The basic blood biochemical tests indicated a normal hepatorenal function. Four serum biomarkers of hepatic fibrosis were all elevated and the urine test for an early detection of the renal injury was positive. The genetic sequencing proved two heterozygous missense mutations of polycystic kidney and hepatic disease 1 (PKHD1) gene, c.9292G>A and c.2507T>C, inherited from each of his parents respectively. The former was a novel mutation that had been verified as disease causing through the predicting software while the latter had been reported from one recent case study on Chinese twins, which was possibly unique among Chinese population. The relations between the gene type and the clinical phenotype were not clarified yet. Up till a follow-up eleven months later after the discharge, the patient had a normal hepatorenal function without occurrence of any severe complication yet. The clinical symptoms of Caroli syndrome with ARPKD at infant stage were atypical and the enlargement of liver and kidney was usually the sole symptom. From the above systematic retrospective clinical analysis, as well as the relevant literature review, it's been concluded that the features of the hepatorenal images in patients with Caroli syndrome and ARPKD were distinctive. Genetic testing combined with the imaging study benefits a definite diagnosis as well as a differentiation from other hepatorenal fibrocystic diseases. Specific to the long-term management of this kind of patients, it's necessary to schedule a regular follow-up to monitor the hepatorenal function and the occurrence of various complications for an appropriate intervention, meantime to devote efforts to the genetic counseling work for the patients' family.
Asunto(s)
Humanos , Lactante , Masculino , Pueblo Asiatico , Conductos Biliares Intrahepáticos , Enfermedad de Caroli/genética , China , Pruebas Genéticas , Heterocigoto , Riñón , Cirrosis Hepática , Mutación Missense , Fenotipo , Riñón Poliquístico Autosómico Recesivo/genética , Receptores de Superficie Celular/genética , Estudios RetrospectivosRESUMEN
Aim To explore the effect and mechanism of antioxidant peptide AOP1 on repair of skin burn wound healing in mice.Methods Fluorescence probe DCFH-DA was used to detect the changes of intracellular reactive oxygen species (ROS).Cell proliferation and migration assay were used to detect AOP1 toxicity and its effect on wound healing.Moreover,the skin scald wound was made on the shaved dorsum of the anesthetized mice with a 1.0 cm diameter brass cylinder heated in a water bath at 80 ℃ for 2 min and pressed against the rat skin for 10 s.The effects of AOP1 on the healing of skin burns were observed by HE and Masson staining and the contents of MDA and the activity of SOD in skin tissues were measured.Results The antioxidant peptide AOP1 could significantly reduce the number of ROS in HaCaT and L929 cells,and promote cell migration and proliferation.Compared with the untreated group,the skin healing time of AOP1 group was short,the healing rate was high,the area of scab was small,and inflammation and the content of MDA in burned tissue significantly decreased.The effect of AOP1 on healing of burn wound healing was also confirmed by HE and Masson staining.Conclusion It is suggested that the antioxidant peptide AOP1 with natural activity may promote the healing of skin burns by reducing the oxidative stress caused by burns.