Case report of sphingosine phosphate lyase insufficiency syndrome / 中华实用儿科临床杂志

The data of a child with sphingosine phosphate lyase insufficiency syndrome (SPLIS) admitted to Children′s Hospital of Hebei Province on February 4, 2020 were retrospectively analyzed.The child had edema, complicated with ichthyosis, adrenal calcification, and hearing loss from the early infancy.Laboratory examination results suggested a low albumin level, hypercholesterolemia, a high proteinuria level, abnormal liver and renal functions, and hyponatremia.The child gave up treatment and died at home.Whole Exome Sequencing (WES) results showed two hete-rozygous mutations of SGPL1 gene (chr10: 72604336, c.134G>A, p.W45X; chr10: 72629563, c.719G>T, p.S240I). SPLIS is inherited in an autosomal recessive manner.It starts in infancy, and affects the kidney, skin, endocrine, nervous and immune systems.It is suggested that SPLIS patients should take genetic examination.Early diagnosis, appropriate intervention, and vitamin B 6 treatment may relieve some symptoms of SPLIS patients.Adeno-associated virus mediated SGPL1 gene replacement therapy can be a novel cure of SPLIS and is worthy of investigation.

Clinical analysis of the microangiopathic hemolytic anemia and renal impairment secondary to methylmalonic ;academia in children / 临床儿科杂志

Objectives To review the clinical features in children with methylmalonic academia (MMA) having the primary clinical manifestations of microangiopathic hemolytic anemia and renal impairment. Methods The clinical data of 4 children diagnosed of MMA with the primary clinical manifestations of microangiopathic hemolytic anemia and renal impairment were retrospectively analyzed from August 2013 to present. Results In the four children (two boys and two girls) with the age from nine months to three years seven mouths, two children were diagnosed with MMA combined with homocysteine, and 2 children were diagnosed with MMA, but there was no homocysteine testing. All four children showed moderate to severe anemia, proteinuria, hematuria, and hypertension. One child had abnormal renal function and thrombocytopenia, and manifested as hemolytic uremic syndrome. Renal biopsy was performed in 2 children and they had glomerular sclerosis lesions with renal tubular necrosis and mesangial proliferative glomerulonephritis respectively. All children were treated with vitamin B12, and the indexes of microangiopathic hemolytic anemia and renal impairment were improved signiifcantly. Conclusions MMA may be combined with microangiopathic hemolytic anemia, renal impairment and even hemolytic uremic syndrome, and the early diagnosis and treatment is required.

Progress in immunopathogenesis of Henoch-Schonlein purpura / 中国小儿急救医学

Henoch-Schonlein purpura is a common general small-vessel vasculitis among children.The purpura repeated easily.It's called Henoch-Schonlein purpura nephritis when kidney is involved.The pathogenesis of Henoch-Schonlein purpura is unknown.In many researches,the levels of serum cytokines are abnormal expression,such as IL-6,IL-21,and IL-33.In rencent researches,cytokines' abnormal expression plays a fatal role in pathogenesis of Henoch-Schonlein purpura and Henoch-Schonlein purpura nephritis.