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1.
Chinese Journal of Medical Genetics ; (6): 637-640, 2020.
Artigo em Chinês | WPRIM | ID: wpr-826517

RESUMO

OBJECTIVE@#To explore the clinical features and genetic basis for a patient with hereditary hypophosphatemic rickets with hypercalciuria(HHRH).@*METHODS@#Clinical data of the patient was collected. The patient was subjected to whole exome capture and next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing.@*RESULTS@#The patient presented with hypophosphatemic rickets, short stature, hypercalciuria, and renal stones. NGS showed that he has carried compound heterozygous variants of the SLC34A3 gene, namely c.532_533delCA(p.Q178Vfs*6) and c.894_925+69del(splicing). His parents were asymptomatic heterozygous carriers of one of the variants. Based on ACMG guidelines, both variants were classified as pathogenic.@*CONCLUSION@#The compound heterozygous variants c.532_533delCA (p.Q178Vfs*6) and c.894_925+69del(splicing) of the SLC34A3 gene probably underlie the disease in this child. Above finding has enriched the variant spectrum for HHRH. Based on the results, prenatal diagnosis may be provided for the family.

2.
Journal of Clinical Pediatrics ; (12): 412-414, 2017.
Artigo em Chinês | WPRIM | ID: wpr-619033

RESUMO

Objective To explore the clinical features of nephrotic syndrome combined with H1N1 influenza. Methods The clinical manifestations, laboratory and image examinations, treatment, and prognosis of nephrotic syndrome combined H1N1 influenza were retrospectively analyzed in 15 children with. Results All of 15 children with nephrotic syndrome met the diagnostic criteria of H1N1 influenza. The median age of all children was 4-year-8-month old (2-year-2-month to 6-year-9-month). All children were treated with hormone alone or combined with other immunosuppressive drugs. Three cases were severe and another 5 cases were critically ill. Four cases were complicated with recurrence of nephrotic syndrome, 2 of which suffered from acute renal insufficiency. All children were given oseltamivir as antiviral treatment at admission. Four cases took oseltamivir within 48 hours of onset and showed mild symptoms. Fourteen children with H1N1I influenza were cured, their urinary proteins were significantly decreased or converted to negative, and the median hospital stay was 8 days (1 to 25 days). One child died of acute necrotizing encephalopathy and brain herniation. Conclusions Children with nephrotic syndrome are susceptible to severe or critical H1N1 influenza infections. During the epidemic of H1N1 influenza, the clinical preventive measures should be taken in children with nephrotic syndrome.

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