Friis Rosenberg (lyricsaw5)

Objective To investigate the clinical characteristics, treatment and prognosis of TRPC6 variation induced children with steroid-resistant nephrotic syndrome (SRNS). Methods Clinical data of four patients with nephrotic syndrome carrying TRPC6 variations, who were admitted to the Department of Nephrology and Rheumatology, Children's Hospital of Shanghai from Jan. 2017 to Dec. 2019, was retrospectively analyzed. The literature search was conducted with "nephrotic syndrome" "child" and "TRPC6 variation" as keywords in China National Knowledge Infrastructure (CNKI), Wanfang, Weipu and Pubmed databases until August 2020. Results One of the four cases was male, and the others were female. Onset age ranged from 4-year-1-month to 12-year-2-month. They presented severe proteinuria, hypoalbuminemia or edema as a first symptom. Four patients had anemia, and two patients had secondary hyperparathyroidism, and one patient had renal atrophy. Renal pathology showed that one case was immune complex associated with glomeruloninuria and hypoproteinemia, 6 cases only showed proteinuria. The pathological type of 19 cases were FSGS, 2 cases were IgA nephropathy, 2 cases were minimal change disease, 1 case was collapse glomerulopathy, 1 case was C1q nephropathy, and 1 case was immune complex associated glomerulonephritis. Glucocorticoid therapy was ineffective in 18 cases, and calcineurin inhibitor was ineffective in 11 cases. The prognosis of the disease was poor. 2-[(1-hydroxy-2-oxo-2-phenylethyl)sulfanyl]acetic acid Renal failure occurred in 12 cases, and the time to end stage renal disease was from 4 months to 13.8 years. Conclusions TRPC6 variation can cause SRNS at a young age. FSGS is the primary pathological type of SRNS causing by TRPC6 variation. Glucocorticoid and immunosuppressive therapy are mostly ineffective. The disease progressed rapidly and the prognosis is poor.Objective To analyze the clinical, genetic characteristics and follow-up data of Chinese patients with hypophosphatasia (HPP). Methods A retrospective analysis was conducted on six children with HPP admitted to the Department of Endocrinology, Genetics and Metabolism in Beijing Children's Hospital from October 2010 to January 2019. Summarized the clinical and follow-up data of all six patients, as well as the pathogenic variants of five children. Results The serum alkaline phosphatase levels of all six children (five males and one female) were significantly reduced (2-49 U/L). The 6 patients aged from 2 months to 6 years and 4 months, 4 infantile HPP, 1 childhood HIP and 1 odonto HPP. The four patients with infantile HPP presented with anorexia, slow weight gain and hypercalcemia, whereas the one patient with childhood HPP and the other patient with odonto HPP had tooth loss. The patient with childhood HPP also manifested with motor dysfunction. Genetic testing was conducted for five patients and 4 unrelated Chinese families and revealed 10 variations in ALPL gene, including 7 missense variation, 1 insertion variation, 1 frameshift variation, 1 deletion variation.Of which 3 were novel (p.Y28C, p.268, F>L, p.A176V).One of the infantile patients lost follow-up and the other three deceased. The clinical conditions were much improved with medical intervention for patients with childhood, orodonto HPP. Conclusions While HPP patients with different ages of onset present with common features, the prognosis differ significantly. The prognosis is good for patients with childhood, orodonto HPP and poor for patients with infantile HPP. Genetic testing is the main method for definitive diagnosis.Objective To investigate the clinical characteristics, treatment and prognosis of children with acquired thrombotic thrombocytopenic purpura (TTP). Methods The clinical manifestations, laboratory examination, treatment and prognosis of 5 children with acquired TTP hospitalized in Beijing Children's Hospital, Capital Medical University from January 2016 to July 2019 were analyzed retrosp