ABSTRACT
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.
ABSTRACT
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.
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Objective To analyze the relationship between clinical and pathological features in children with Henoche-Sch?nelin purpura nephritis (HSPN). Methods Clinical and pathological data of 89 children with HSPN from April 2009 to April 2013 in our hospital were retrospectively analyzed. Results A majority of patients (94.83%) suffered nephritis within two month after purpura. Clinically, hematuria and proteinuria (41.6%), nephrotic syndrome (27.0%), and isolated protein-uria (21.3%) are the most common type in children with HSPN. The majority of pathological changes of these three types HSPN are gradeⅢ, which accounts for 67.6%, 70.8%, and 73.7%, respectively. The clinical manifestations are closely associated with pathologic classiifcation (H=26.88, P=0.000). IgA plus IgM deposit was the most common type (40.45%) in histological and immunopathologic changes.There was no statistical difference between the pathologic classification and immunopathologic types. Gastrointestinal bleeding was associated with pathologic classiifcation. Conclusions The pathological changes of HPSN patients are mainly of gradesⅡandⅢ, and the clinical manifestations, gastrointestinal bleeding in particular, are closely associated with pathological classiifcation.
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Objective To investigate the chanegs and correla iton between IL-17 and MMP-9 in c hildren of henoch-schonlein purpura,and to explore the pathogenesis of teh IL-17 and MMP-9 in henoch-schonlein pur-pura /henoch-schonlein purpura nephritis.Methods The level of serum IL-17 andMMP-9 in 74 henoch-schon-lein purpura childr en in initial stage and 30 cases of healthy children( control group) were detetced by ELISA. Results (1) The level of plasma IL-17 was significantly higher in children of henoch-schonlein purpura thna tha t foh ealthy control group (86.59 ±35.50) fg/L vs.(62.38 ±14.65)fg/L,P0.05).Conclusion IL -17 and MMP-9 are involved in the pathogenesis of henohc-schonlein purpura/henoch-schonlein pur pura nephritis.
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Objectives To investigate the clinical effect of hemoperfusion in severe juvenile dermatomyositis. Meth-ods Two patients with severe juvenile dermatomyositis, who accepted hemoperfusion treatment, were retrospectively analyzed. Results In these 2 patients, the hemoperfusion process were smooth. The muscle pain was reduced and the muscle enzymes were decreased. After hemoperfusion, one patient refused to continue treatment and the disease recurrent. The other patient con-tinued to accept the immunosuppressive therapy and eventually improved. Conclusions For juvenile dermatomyositis, hemo-perfusion was a safe and effective auxiliary treatment. It could be applied when the general treatment was invalid.