Objective: To summarize the clinical data and molecular characteristics of two siblings with
Fechtner syndrome. Methods: A retrospective analysis was made on the clinical data, laboratory tests and genetic test results of two siblings with
Fechtner syndrome in a family who were followed up in the Department of Nephrology, Children's Hospital Affiliated to Nanjing Medical University from April 2018 to August 2018. Results: Both siblings showed
proteinuria, microscopic
hematuria and
thrombocytopenia. Giant platelets and leucocyte inclusions were easily seen in peripheral blood smears and bone marrow cells, but the results of renal function, hearing and ophthalmologic examinations were normal. The father of the siblings presented with
proteinuria,
thrombocytopenia, and
hearing loss. At the age of 26 years, he developed
uremia and now requires
hemodialysis. The renal biopsy of the elder sister suggested
focal segmental glomerulosclerosis. Gene analysis showed that the siblings and their father MYH9 gene 25 exon c.3195_c.3215 delCGAGCTCCAGCCCAGATCGC (p.A1065_A1072 del) deletion mutation. The elder sister was treated with
benazepril hydrochloride for 4 months and the
proteinuria was improved. Her younger brother was given
tacrolimus for 3 months, but the
proteinuria did not improve significantly, then
benazepril hydrochloride was given for 1 month and
proteinuria improved. Conclusions:
Fechtner syndrome is characterized by
nephritis,
thrombocytopenia, giant platelets and leucocyte inclusions. The variant of MYH9 gene is the cause of
Fechtner syndrome. The deletion mutation of p.A1065_A1072del is the second international report.
Angiotensin-converting enzyme inhibitors may be effective in reducing
proteinuria in patients with
Fechtner syndrome.