Diagnosis and Management of Atypical Hemolytic Uremic Syndrome In Children: Single Centre Experience

Atypical hemolytic uremic syndrome (aHUS) although rare is the commonest cause of acute renal failure (ARF) in children and has poor prognosis. We present single centre experience of aHUS. Thirty six children (29 males, 7 females) with mean age, 7.9 years presented with ARF, 2 children also had tonic–clonic type convulsions. Their hematology examination revealed hemolytic anemia with s. creatinine (SCr), 5.54 mg/dl. Acute HUS was observed in 75 %, acute on chronic HUS in 19.4 % and patchy cortical necrosis (PCN) in 5.6 % biopsies. Mean 5.4 plasma exchanges (PE) were carried out. Supportive management of anti-hypertensives and prednisone was also given. Recovery end points were establishment of urine output, improvement of SCr and hematological profile. Hematology and renal function profile improved variably in all children, 5.6 % died, relapse was observed in 80.5 % over mean 70 days; 13.9 % children are doing well over mean follow-up of 268.8 days. Thus poor prognosis was observed in 86.1 % children. Children with acute on chronic HUS and PCN did not recover. Six children who recovered had acute HUS. aHUS in Indian children occurs at an older age of around 8 years and chronic/irreversible changes on histopathology examination are harbingers of poor prognosis. PE is life-saving however further research for developing strategies to improve long-term survival is needed.     

Acute pancreatitis induced thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura (TTP) is a rare syndrome of unknown cause with an estimated incidence of one case per million. The disease is characterized by a pentad of symptoms: Thrombocytopenia, microangiopathic hemolytic anemia, neurologic changes, renal dysfunction, and fever. It causes thrombosis in the microvasculature of several organs, producing diverse manifestations. Acute pancreatitis (AP) is a well-described consequence of TTP. Acute pancreatitis triggering TTP is uncommon.     

丙氨酰-谷氨酰胺强化营养支持治疗腹型过敏性紫癜患儿的临床研究

目的 了解丙氨酰-谷氨酰胺强化营养支持对于腹型过敏性紫癜患儿的临床有效性。方法 将需要营养支持的腹型过敏性紫癜患儿依据年龄、性别、病情进行分层，随机分为对照组（n=118）和强化营养组（n=107）。对照组未使用丙氨酰-谷氨酰胺，强化营养组使用丙氨酰-谷氨酰胺，根据病情给予静脉激素，其余治疗相同。比较两组患儿住院总时间、静脉激素使用率和时间、住院期间症状有无反复、全静脉营养使用率、体重降低发生率、禁食 > 5 d比例；并在出院后随访3个月，了解症状有无复发。结果 两组住院总时间、全静脉营养使用率、禁食 > 5 d比例比较差异无统计学意义（P > 0.05）；对照组静脉激素的使用比例和时间、症状反复、体重下降比例均高于强化营养组（P < 0.05）。出院后随访3个月，所有患儿均恢复了正常饮食，两组消化道症状复发率均小于20%，主要以腹痛为主要表现（83.33%，30/36），其次为呕吐和腹胀，无消化道出血表现，予以对症治疗可缓解，两组间消化道症状复发率比较差异无统计学意义（P=0.693）。结论 丙氨酰-谷氨酰胺强化营养支持治疗腹型过敏性紫癜患儿能够减少静脉激素的使用，降低体重的下降，但是对住院总时间和出院后复发无影响。     

Early cutis marmorata telangiectatica congenita masquerading as ulcerated retiform purpura: a diagnostic trap

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital cutaneous vascular anomaly with a reticular marbled erythematous pattern, which can result in isolated benign skin lesions or less commonly be associated with systemic anomalies. Occasionally, the characteristic pattern of CMTC lesions is masked on initial presentation, creating a diagnostic conundrum that can result in unnecessary workups to rule out vasculopathy. We present the case of a female newborn with a red-blue ulcerated skin lesion on the right leg and foot, which initially appeared as retiform purpura but evolved to exhibit the mottled pattern of CMTC by 5 days of age. Clinicians must be made aware of this potential diagnostic trap in early CMTC to avoid invasive skin biopsies and unnecessary laboratory testing in neonates.     

西咪替丁联合潘生丁治疗86例过敏性紫癜患者的疗效分析

目的探讨西咪替丁联合潘生丁治疗过敏性紫癜的临床疗效。方法将在我院2012年6月至2013年6月收治的过敏性紫癜86例患者,随机分为观察组和对照组,观察组给予西咪替丁联合潘生丁治疗,对照组给予泼尼松、维生素C、维生素D、钙剂、氯雷他定治疗。比较两组患者临床疗效及不良反应的发生情况。结果观察组总有效率93.02%,对照组有效率79.07%,两组总有效率具有差异性(P<0.05)。且观察组患者皮肤紫癜消退时间,临床症状消失时间,住院天数均明显低于对照组,两组相比具有差异性(P<0.05),西咪替丁联合潘生丁也无明显不良反应。结论西米替西联合潘生丁治疗过敏性紫癜疗效显着,且无严重不良反应,使用便利,患者依从性好,值得临床广泛推广和使用。     

Cellular expression of CD markers in immune thrombocytopenic purpura: implications for prognosis

Immune thrombocytopenic purpura (ITP) is an autoimmune bleeding disorder associated with platelet destruction. Abnormalities in frequency and function of different immune cells can play a crucial role in this disease. The aim of this study was to evaluate the prognostic value of CD markers’ expressions by immune cells in ITP. Peripheral blood samples were collected from 25 ITP patients before and after treatment. The expression of CD markers was evaluated by flow cytometry technique. The expression of CD38 and CD56 was significantly lower before treatment than after it (p = 0.025 and p = 0.036, respectively). Furthermore, a positive correlation was found between CD38 expression with platelet count before (r = 0.496, p = 0.012) and after treatment (r = 0.404, p = 0.045). No significant relationship was found between this marker and platelet count while CD4 expression was higher before treatment than after it (p = 0.002). In conclusion, CD38 may have independent prognostic value in ITP and we suggest that it can be a prognostic marker for this disease.     

Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura

Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare, recessively inherited genetic disorder with varying clinical presentation that is caused by ADAMTS13 mutations. Several studies have found limited associations between ADAMTS13 mutations and cTTP phenotype. The use of in silico tools that examine multiple mutation characteristics may better predict phenotype. We analysed 118 ADAMTS13 mutations found in 144 cTTP patients reported in the literature and examined associations of several mutation characteristics, including N‐terminal proximity, the evolutionary conservation of the affected amino acid position, as well as amino acid charge/phosphorylation and genetic codon usage to disease phenotype. Structure‐altering mutations were examined for their impact on ADAMTS13 function based on existing ADAMTS13 crystallographic data (AA 77‐685). Our in silico data indicate that: (i) The position of the mutation in the N‐ or C‐terminus, (ii) evolutionary conservation and (iii) codon usage of the affected mutation position are associated with disease parameters, such as age of onset, organ damage and fresh frozen plasma prophylaxis. In conclusion, the usage of multiple in silico tools presents a promising strategy in refining predictions for the diverse presentation of cTTP. Enhancing our utilization of in silico tools to find genotype‐phenotype associations will create better‐tailored approaches for individual patient treatment.     

Familial acquired thrombotic thrombocytopenic purpura in siblings – no immunogenetic link with associated human leucocyte antigens

Acquired immunoglobulin G (IgG)‐mediated thrombotic thrombocytopenic purpura (TTP) has not yet been described in non‐twin siblings. We report two cases of acquired TTP in Caucasian sisters with inactive ADAMTS13 metalloprotease due to ADAMTS13 autoantibodies suggesting a role of genetic determinants in this life‐threatening disease. However, human leucocyte antigen (HLA) class II types presumably associated with acquired TTP were not identified in the patients, indicating that HLA class II typing may not be useful in acquired TTP risk assessment of family members.