更新于：2024-11-01

Lesch-Nyhan Syndrome

Lesch-Nyhan综合征

更新于：2024-11-01

基本信息

别名

Choreoathetosis Self Mutilation Hyperuricemia Syndrome、Choreoathetosis Self Mutilation Syndrome、Choreoathetosis Self-Mutilation Hyperuricemia Syndrome

+ [159]

简介

An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)

关联

项与 Lesch-Nyhan综合征相关的药物

Sapropterin Dihydrochloride

盐酸沙丙蝶呤

靶点

PAH

作用机制

PAH激动剂

在研机构

Dipharma Francis Srl [+5]

原研机构

Daiichi Sankyo Co., Ltd.

在研适应症

BH4缺乏的B型高苯丙氨酸血症 [+4]

非在研适应症

白蛋白尿 [+12]

最高研发阶段批准上市

首次获批国家/地区

日本

首次获批日期1992-03-27

Ecopipam

依考匹泮

靶点

D1 receptor

作用机制

D1 receptor拮抗剂

在研机构

Emalex Biosciences, Inc.初创企业 [+1]

原研机构

Merck Sharp & Dohme Corp.

在研适应症

Tourette 综合征 [+1]

非在研适应症

可卡因相关疾病 [+6]

最高研发阶段临床3期

首次获批国家/地区-

首次获批日期1800-01-20

Darbinurad

靶点

URAT1

作用机制

URAT1抑制剂

在研机构

益方生物科技（上海）股份有限公司

原研机构

益方生物科技（上海）股份有限公司

在研适应症

痛风 [+2]

非在研适应症-

最高研发阶段临床2期

首次获批国家/地区-

首次获批日期1800-01-20

项与 Lesch-Nyhan综合征相关的临床试验

NCT06092346 / RecruitingN/AIIT

Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Background:
Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers want to learn more about what causes them and how to treat them.
Objective:
To learn more about factors that affect DPPMs by comparing test results from affected, uaffected family members, and healthy people.
Eligibility:
Three types of participants are needed: people aged 1 month and older with DPPMs; their family members who do not have DPPMs; and healthy volunteers.
Design:
Participants with DPPMs will come to the clinic once a year; some may be asked to come more often. At each visit, all affected participants will have a physical exam and give samples of blood, urine, saliva, and stool. Depending on their symptoms, they may also have other procedures, such as:
Swabs of their skin and inside the mouth.
Tests of their heart, kidney, brain, and nerve function.
Questionnaires about what they eat.
Dental exams, and exams of their hearing and vision.
Tests of their learning ability.
Monitoring of their physical activity.
Imaging scans.
Photographs of their face and body.
These tests may be spread over up to 7 days. Affected participants may remain in the study indefinitely if they wish to.
Healthy volunteers and family members will have 1 study visit. They will have a physical exam and may be asked to give blood, urine, saliva, and stool samples.

开始日期2023-12-19

申办/合作机构

National Human Genome Research Institute

CTR20232294 / CompletedN/A

别嘌醇片（100mg）在中国健康受试者中空腹和餐后给药条件下随机、开放、单剂量、交叉生物等效性试验

主要研究目的：按有关生物等效性试验的规定，选择Aspen Pharma Trading Limited为持证商的别嘌醇片（商品名：Zyloric，规格：100mg）为参比制剂，对石家庄四药有限公司生产的受试制剂别嘌醇片（规格：100mg）进行空腹和餐后给药人体生物等效性试验，比较受试制剂中药物的吸收速度和吸收程度与参比制剂的差异是否在可接受的范围内，评估两种制剂在空腹和餐后给药条件下的生物等效性。次要研究目的：观察健康志愿受试者口服受试制剂别嘌醇片（规格：100mg）和参比制剂别嘌醇片（商品名：Zyloric，规格：100mg）的安全性。

开始日期2023-08-27

申办/合作机构

石家庄四药有限公司

NCT05504083 / Completed临床2期

A Multicenter Randomized and Controlled Phase IIb Study to Evaluate the Efficacy and Safety of D-0120 Tablets in Patients with Primary Hyperuricemia

This is a randomized, open-label, parallel-controlled, multicenter clinical trial in primary hyperuricemia patients with or without gout.

开始日期2022-09-28

申办/合作机构

益方生物科技（上海）股份有限公司

100 项与 Lesch-Nyhan综合征相关的临床结果

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100 项与 Lesch-Nyhan综合征相关的转化医学

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0 项与 Lesch-Nyhan综合征相关的专利（医药）

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1,605

项与 Lesch-Nyhan综合征相关的文献（医药）

2024-11-01·Pathology - Research and Practice

Heterotopic salivary duct inclusions in Warthin tumor – A cryptic histological finding involved in its pathogenesis

Article

作者: Goto, Masamichi ; Jougasaki, Yasuyo ; Nomoto, Mitsuharu ; Tanaka, Tomonori ; Matsuzaki, Tsutomu ; Nishimoto, Kengo

Warthin tumor (WT) is the second most common benign parotid gland tumor after pleomorphic adenoma. WT is characterized by cystic and papillary proliferation of a two-layered oncocytic epithelium supported by lymphoid tissue. Heterotopic salivary duct inclusions (SDIs) are frequently observed in lymph nodes (LNs) of WT (SDI/LNs), and are thought to be the origin of WT. If this is true, SDIs should also persist in the lymphoid tissue of WT itself (SDI/WT), as a missing link between SDIs and WTs, but studies of this issue are limited. From 2008-2023, 138 WT cases were surgically excised at our hospital. SDI/LNs and SDI/WTs were histologically examined. Of 100 WT cases with LNs, SDI/LNs were observed in 67 cases (67 %). SDI/WTs were detected in 114 of 138 cases (82.6 %), including 107 of 127 smokers (84.3 %) and 7 of 11 never-smokers (63.6 %). SDI/WTs were located mainly in the subcapsular lymphoid tissue and often surrounded by a fibrous coat resembling salivary excretory ducts. This study revealed a high incidence of SDIs in WT itself, strongly supporting the theory that WT develops from heterotopic salivary ducts.

2024-10-01·Neuroscience & Biobehavioral Reviews

Management of neurological symptoms in Lesch-Nyhan disease: A systematic review.

Review

作者: Tomaszewska, Jagoda ; Urbanowicz, Krzysztof ; Peters, Godefridus J ; Chojnowski, Karol ; Opiełka, Mikołaj ; Krajewski, Oliwier ; Kochany, Paweł ; Bełdzińska, Maria Mazurkiewicz- ; Pawłowski, Kacper ; Smoleński, Ryszard T

Lesch-Nyhan Disease (LND) is an X-linked recessive genetic disorder arising from hypoxanthine phosphoribosyltransferase 1 gene mutations, leading to a complete deficiency. LND presents a complex neurological profile characterized by generalized dystonia, motor dysfunctions and self-injurious behavior, which management is challenging. We conducted a systematic review of studies assessing the efficacy of pharmacological and non-pharmacological interventions in management of neurological symptoms in LND (PROSPERO registration number:CRD42023446513). Among 34 reviewed full-text papers; 22 studies were rated as having a high risk of bias. Considerable heterogeneity was found in studies regarding the timing of treatment implementation, adjunctive treatments and outcome assessment. Single-patient studies and clinical trials often showed contradictory results, while therapeutic failures were underreported. S-Adenosylmethionine and Deep Brain Stimulation were the most studied treatment methods and require further research to address inconsistencies. The evidence from levodopa studies underlines that optimal timing of treatment implementation should be thoroughly investigated. Standardized study design and reducing publication bias are crucial to overcome current limitations of assessing intervention efficacy in LND.

2024-09-01·Quantitative Imaging in Medicine and Surgery

Quantitative and qualitative analysis of contrast-enhanced ultrasound for differentiating benign and malignant superficial enlarged lymph nodes

Article

作者: Du, Jia-Rui ; Zhang, Han-Yu ; Sui, Guo-Qing ; Huang, Mei-Yu ; Yue, Zong-Hua ; Li, Wen-Hui ; Liu, Xing-Rui ; Yin, Shao-Hua

BackgroundIn many clinical situations, it is critical to exclude or identify abnormally lymph nodes (LNs). The nature of superficial abnormally LNs is closely related to the stage, treatment, and prognosis of the disease. Ultrasound (US) is an important method for examining superficial LNs due to its cheap and safe characteristics. However, it is still difficult to determine the nature of some LNs with overlapping benign and malignant features in images. Contrast-enhanced ultrasound (CEUS) can be used to evaluate the microperfusion status of tissues in real time, and it can improve diagnostic accuracy to a certain extent. Therefore, in this study, we will analyze the correlation between CEUS quantitative parameters and benign and malignant superficial abnormally LNs, to evaluate the efficacy and value of CEUS in distinguishing benign and malignant superficial LNs.MethodsThis study retrospectively analyzed 120 patients of abnormal LNs who underwent US and CEUS at the China-Japan Union Hospital of Jilin University from December 2020 to August 2023. All 120 cases of abnormal LNs underwent US-guided coarse needle biopsy, and accurate pathological results were obtained, along with complete US and CEUS images. According to the pathological results, LNs were divided into benign and malignant groups, and the qualitative and quantitative parameters of US and CEUS between the two groups were analyzed. The cutoff value is determined by the receiver operating characteristic (ROC) curve of the subjects, and sensitivity, specificity, and accuracy are applied to evaluate the ability of the cutoff value to distinguish between the two groups.ResultsThere were a total of 120 LNs, including 36 in the benign group and 84 in the malignant group. The results showed that malignant LNs were usually characterized by the disappearance of lymphatic hilum, round ness index (L/T) <2, irregular morphology, and the manifestation of uneven perfusion (P<0.05). The differences in the quantitative parameters peak enhancement (PE), rise time (RT), time to peak (TTP), wash-in rate (WIR), and wash-out rate (WOR) were statistically significant (P<0.05). The result showed that RT and TTP in the malignant LNs were higher than those in the benign LNs, while the PE, WIR, and WOR were lower. A comparison of the ∆ values showed that the differences in ∆PE, ∆WIR, and ∆fall time (FT) were statistically significant (P<0.05), Among them, the ∆PE and ∆WIR of malignant LNs were higher than those of benign LNs, while the ∆FT was lower than that of benign LNs.ConclusionsQuantitative analysis of CEUS features is valuable in the diagnosis of benign and malignant LNs, and US combined with CEUS helps to improve the accuracy of identifying the nature of LNs.