中国5家系类脂蛋白沉积症临床和遗传特点分析

目的：了解中国人群中类脂蛋白沉积症(LP)的临床表型和遗传学特点。方法：描述了我院确诊的一LP家系中患者的临床表型和遗传特点，并综合20多年来国内文献报道的LP家系进行比较分析。结果：(1)LP在家系中的传递符合常染色体隐性遗传方式；(2)表型特点为患者多在2岁内发病，声音嘶哑、眼睑串珠状半透明丘疹，在每个患者均出现；一些少见的表现，如颅内钙化灶仅在家系1中出现，复发性腮腺炎或扁桃体炎仅在家系1和家系5中出现；6例患者健康状况不受该病影响，家系1中的先证者在18岁时曾出现呼吸困难；(3)多不伴发其他遗传病和系统疾病；(4)患者临床表现有一定程度的相似性，但严重程度有很大差异，既使在同一家系中也如此。结论：LP是一种罕见的常染色体隐性遗传病，中国人群中其致病基因的突变频率很低；LP临床表型相似，但不同患者表现度存在较大差异。     

Recessive dystrophic epidermolysis bullosa associated with mesangioproliferative glomerulonephritis and multifocal necrotizing leucoencephalopathy of the pons

We report a woman with recessive dystrophic epidermolysis bullosa (RDEB) in whom there was prolonged sepsis and death at age 22 years. Autopsy revealed multiple epidermolytic skin lesions with chronic ulceration, mesangioproliferative glomerulonephritis and multifocal necrotizing leucoencephalopathy (MNL) of the pons. The latter two conditions may have been mediated by sepsis-associated cytokines. Although mesangioproliferative glomerulonephritis has previously been described in association with RDEB, to our knowledge this is the first report of MNL in a patient with RDEB.     

Trimethylaminuria in a girl with Prader-Willi syndrome and del(15)(q11q13)

We report on an individual with trimethyl-aminuria, Prader-Willi syndrome, and del(15) (q11q13). To our knowledge, such an association has never been reported. Skin sores secondary to choline-rich foods and amenable to dietary control have not been described in trimethylaminuria, although they are seen in some patients with Prader-Willi syndrome. Pathogenesis, clinical diagnosis, and management of reported cases with trimethylaminuria are reviewed. Serious social and behavioral problems may result from strong body odor. Amelioration of the “fish odor” by dietary choline restriction makes trimethylaminuria detection important. Association of trimethylaminuria with Prader-Willi syndrome and del(15) (q11q13) in this patient is of particular interest. It may represent a contiguous gene syndrome, or deletion of the normal allele leading to expression of a single recessive trimethylaminuria gene, or an unrelated association, such as in Noonan syndrome. However, recent development of mapping of flavin-containing monooxygenase 2 (FMO2), the likely enzyme that is defective in fish odor syndrome, to chromosome 1q probably excludes pathogenetic association of fish odor syndrome with the Prader-Willi syndrome. © 1993 Wiley-Liss, Inc.     

先天性运动型眼球震颤的分子遗传学研究进展

先天性运动型眼球震颤(Congenital motor nystagmus,CMN)是一种常见的眼科遗传病,在新生儿中发生率较高,具有较高的遗传异质性,其遗传方式包括常染色体显性、常染色体隐性和X连锁等.近年来随着分子生物学技术的发展和在遗传病研究中的应用,CMN的遗传学研究取得了较多进展.目前x连锁遗传的CMN致基因...     

Kidney and liver transplantation in children with fibrocystic liver–kidney disease: Data from the US Scientific Registry of Transplant Recipients: 1990–2010

The natural history and survival of children with fibrocystic liver–kidney disease undergoing solid organ transplantation have infrequently been described. We report outcomes in a cohort of US children with fibrocystic liver–kidney disease receiving solid organ transplants over 20 yr. Retrospective cohort study of pediatric transplant recipients with diagnoses of fibrocystic liver–kidney disease from 1/1990 to 3/2010, using data from the SRTR. Subjects were categorized by the first transplanted organ: LT, KT, or SLK. Primary outcomes were death, re‐transplant, transplant of the alternate organ, or initiation of dialysis. Seven hundred and sixteen subjects were transplanted in this period. Median age at first transplant was 9.7 yr. Of the LT, 14 (19%) required a second liver transplant at median of 0.2 yr, and five (7%) required kidney transplant or dialysis at a median of 9.0 yr. Of the KT, 188 (31%) required a second kidney transplant or dialysis at a median of 5.9 yr. Twenty‐nine (5%) subsequently received liver transplant at a median of 6.0 yr. Among patients in this registry, far more children underwent kidney than liver transplants. The risk of subsequently needing transplantation of an alternate organ was low.     

Validity and Reliability of Outcome Measures Assessing Dexterity,Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Objective

To document in adults affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) the intra- and interrater reliability, standard error of measurement, agreement, minimal detectable change, and construct validity of the 9-Hole Peg Test (NHPT), the Standardized Finger-to-Nose Test (SFNT), and grip strength.

Familial dilated cardiomyopathy

Considerable progress has been made to identify genetic causation of dilated cardiomyopathy (DCM). DCM is characterized by left ventricular dilatation and systolic dysfunction, and after known causes have been excluded has been termed idiopathic dilated cardiomyopathy (IDC). Studies of IDC that occurs in families, termed familial dilated cardiomyopathy (FDC) provided the initial phenotypic data to suggest genetic causation. The study of large families with linkage analysis and gene mapping methods have recently implicated 16 autosomal genes and two X-linked genes. Mutations in these genes account for approximately 20–30% of genetic causation, suggesting that additional genetic causation remains unknown. FDC demonstrates incomplete penetrance, variable expression, and significant locus and allelic heterogeneity, making diagnosis complex. Echocardiographic and electrocardiographic screening of first-degree relatives of individuals with IDC and FDC is indicated, as detection and treatment are possible prior to the onset of advanced, symptomatic disease. Genetic counseling for IDC and FDC may also be appropriate. It is anticipated that a great deal of additional genetic information yet to be discovered will add greatly to our understanding of the genetics of dilated cardiomyopathy.     

Congenital ichthyosis in a Libyan child with ophthalmic manifestations

This report presents a Libyan child with congenital ichthyosis of the recessive lamellar variety complicated by severe ectropion of both upper and lower eyelids. Over a period of 12 months the degree of ectropion diminished and the anterior segments of the eyes were preserved using regular lubricating drops, vitamin A ointment and intermittent topical antibiotic therapy. Despite the pronounced initial upper eyelid ectropion no surgery was required to relieve the ectropion or prevent corneal exposure.     

Generalized enchondromatosis in a boy with only platyspondyly in the father

We report on a boy with platyspondyly and metaphyseal manifestations of enchondromatosis with severe involvement of hands and feet, compatible with generalized enchondromatosis (enchondromatosis Spranger type VI). His father has only moderate platyspondyly. The latter is either coincidental or a milder, more localized expression of the disease. Father and son have consanguineous parents suggesting autosomal recessive inheritance of the trait. However, autosomal dominant inheritance with variable expressivity is also possible.