[Clinical and pathological features and the misdiagnosis of childhood Alport syndrome: a retrospective analysis of 91 cases].

Objective: To explore the clinical and pathological features and the diagnosis of childhood Alport syndrome (AS).

Methods: A retrospective analysis was performed on clinical data of 91 children with AS.

Results: Hematuria was observed in all 91 patients, of whom 86 were accompanied with proteinuria.

[Clinical and pathological features of Denys-Drash syndrome: report of 3 cases].

Objective: To study the clinical and pathological features of Denys-Drash syndrome (DDS).

Method: Three DDS cases who were treated in our department from December 2009 to June 2011 were subjected to this study by reviewing of literature.

Result: Both case 1 and case 2 were female, with karyotype 46, XX.

[Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby].

Objective: To identify potential mutations in a Chinese collodion baby.

Methods: The patient was investigated clinically. DNA was extracted from peripheral blood of the baby and his parents.