婴幼儿期肾病综合征临床特点分析

目的　探讨婴幼儿期原发性肾病综合征 (简称婴幼儿肾病 )的临床特点 ;分析婴幼儿肾病临床特点、免疫功能、病理分型和糖皮质激素 (简称激素 )疗效的关系。方法　对 31例婴幼儿肾病患儿进行临床观察 ;进行体液免疫和细胞免疫功能测定 ;14例接受肾穿刺活检 ;31例均采用激素中长程疗法 ,18例予以免疫抑制剂如环磷酰胺 (CTX)等联合治疗。结果　婴幼儿肾病临床以肾炎型肾病为主 ;体液免疫和细胞免疫功能下降 ;病理以非微小病变型为主 ;约 6 0 %患儿对激素治疗不敏感 ,需用激素与免疫抑制剂联合治疗。结论　婴幼儿肾病具有与其它儿童肾病综合征不同的特点 ,应当引起临床重视。     

Congenital and infantile nephrotic syndrome in Thai infants

Congenital and infantile nephrotic syndrome reported from the Eastern world is rare and might be a different entity from that in the West. In a retrospective review of 10 nephrotic syndrome in Thai infants (5 girls and 5 boys), 7 were diagnosed with congenital nephrotic syndrome and 3 with infantile nephrotic syndrome. Two had congenital nephrotic syndrome secondary to congenital syphilis. All had edema, ascites, and failure to thrive. Of the 3 patients tested for thyroid function, all showed hypothyroidism. Two patients developed renal failure. Renal tissue was examined from 4 patients from 3 biopsies and 2 autopsies; only 1 patient showed tubular microcysts. Symptomatic therapy was performed concurrently with penicillin therapy in 2 patients having congenital syphilis. Prednisolone, cyclophosphamide, captopril, and enalapril were tried in some patients, with little effect. Five patients died from respiratory failure complicated by later infection, 1 patient died from renal failure, and 4 patients were lost to follow-up. Nephrotic syndrome in the first year of life in the Eastern world is rare. Prognosis of nephrotic syndrome in Thai infants at this time is still poor.     

小儿肾病综合征慢性进展的遗传背景

目前认为肾病综合征 (ＮＳ)主要是细胞免疫功能紊乱所致 ,遗传因素也参与了其发生、发展过程。有研究发现在肾脏的发育和其生理功能的发挥中 ,基因起着关键的作用 ,基因突变或缺失导致了基因产物的错误表达或相关蛋白的缺失 ,从而导致疾病的进展。本文主要从蛋白尿、脂质代谢紊     

Familial infantile pyknocytosis in association with pulmonary hypertension

Infantile pyknocytosis is a rare condition characterized by transient neonatal hemolytic anemia associated with increased pyknocyte count on blood smear. We describe three siblings with infantile pyknocytosis, born to consanguineous parents. The first and third siblings had neonatal hemolytic anemia that resolved spontaneously at 6 months. The second sibling presented at 11 days with severe hemolytic anemia along with pulmonary hypertension. He died at 39 days from sepsis. The findings support a possible autosomal recessive inheritance. We hypothesize that pulmonary hypertension may be secondary to or aggravated by neonatal hemolysis.     

Familial infantile oesophageal achalasia.

Oesophageal achalasia is uncommon in children and in its familial form it is a rarity. The presentation and management of two male siblings who presented with oesophageal achalasia as infants are reported. A high degree of consanguinity in the parents of the children existed, suggesting autosomal recessive transmission.