Abstract:
:Alport syndrome (AS) is a genetically heterogenic, structural disorder of the glomerular basement membrane (GBM) due to the mutation of COL4A3, COL4A4, or COL4A5 genes, which clinically presents as progressive hematuric nephritis with ultrastructural changes of the GBM, high tone sensorineural hearing loss, and ocular lesions. About 15% of AS cases have autosomal mutations of COL4A3 and COL4A4 genes, including homozygous and compound heterozygous mutations. Here, we present a case of a two-year-old boy with autosomal recessive Alport syndrome (ARAS) caused by a novel c.193-2A>C COL4A4 mutation. The patient had a delayed motor and sensory development coupled with speech and language delay, megalencephaly, hematuria and proteinuria, and normal tonal audiogram and ophthalmology exam. Extensive genetic, metabolic, and neurologic workup performed at the age of 10 months was unremarkable and patient's megalencephaly was described as familial benign megalencephaly. Kidney biopsy analysis showed characteristic signs of AS. Mutations screening with use of Illumina MiSeq platform revealed that the patient was homozygous for a newly discovered splice acceptor pathogenic variant c.193-2A>C found in COL4A4 at the genomic position chr2:227985866 and both parents were heterozygous carriers. The genetic heterogeneity of AS makes the diagnostic process challenging. Although renal biopsy provides information about the characteristic GBM changes and the degree of renal parenchyma damage (interstitial fibrosis and tubular atrophy ratio), genetic testing is a more sensitive and specific method that also gives insight into potential disease severity and clinical course, and provides the basis for genetic counseling.
journal_name
Croat Med Jjournal_title
Croatian medical journalauthors
Šenjug P,Nikuševa Martić T,Šenjug Perica M,Oroz M,Horaček M,Ćuk M,Abdović S,Galešić Ljubanović Dsubject
Has Abstractpub_date
2019-10-31 00:00:00pages
458-462issue
5eissn
0353-9504issn
1332-8166journal_volume
60pub_type
abstract:AIM:To investigate if there is an association between M235T polymorphism of angiotensinogen gene and myocardial infarction (MI) risk and perform a meta-analysis and an in silico approach. METHODS:This case-control study included 340 participants (155 MI patients and 185 controls) examined at Kashan University of Medic...
journal_title:Croatian medical journal
pub_type: 杂志文章,meta分析
doi:10.3325/cmj.2016.57.351
更新日期:2016-08-31 00:00:00
abstract:AIM:To evaluate psychosomatic complaints and depressive symptoms among civilians, refugees, and soldiers in the war and post-war period in Croatia. METHOD:The design of the study was longitudinal, including four repeated assessments during the war and post-war period (1993, 1995, 2000, and 2004). The baseline assessme...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2005-04-01 00:00:00
abstract:AIM:To describe the problems in the interpretation of Croatian mortality data and explore possible reasons for the recorded increase in mortality in the 1990-1999 period, particularly related to different methods of collection and estimation of data on deaths and population. METHODS:Numbers of recorded deaths and popu...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2001-12-01 00:00:00
abstract::A study was conducted to determine if modern forensic DNA typing methods can be properly employed throughout the world with a final goal of increasing arrests, prosecutions, and convictions of perpetrators of modern day trafficking in persons while concurrently reducing the burden of victim testimony in legal proceedi...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:10.3325/cmj.2014.55.3
更新日期:2014-02-01 00:00:00
abstract:AIM:To develop an automated, high throughput extraction protocol in order to produce database eligible profiles from fingerprints and other low copy number (LCN) DNA sources. METHODS:Extraction of either purified control DNA or buccal cells, for example, with commercial kits was compared to extraction with a simple di...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2005-08-01 00:00:00
abstract::There may be valuable research going on in the developing and financially less-privileged countries, but it usually does not reach international visibility, in spite of a large number of scientific journals in these countries. Such journals are not only invisible but, by perpetuating a vicious circle of inadequacy, ma...
journal_title:Croatian medical journal
pub_type: 评论,社论
doi:
更新日期:2001-04-01 00:00:00
abstract::Academic medicine integrates three of the most honorable human activities: treating the ill, teaching, and research. The quality that all three share is persistent quest for truth. However, there is reluctance of academic medicine today to openly defend scientific truth by challenging the arguments and the very existe...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2004-12-01 00:00:00
abstract:AIM:To evaluate the effectiveness of suture anchors in the reconstruction of chronic collateral ligaments of fingers. METHODS:We treated 8 patients, 6 with chronic instability of the collateral ligament of the thumb and 2 with the instability of the fifth finger, using the Statak suture anchor. A stable joint was achi...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2001-10-01 00:00:00
abstract::Y-chromosomal short tandem repeats (Y-STRs) are useful forensic DNA markers in investigation of sexual assault cases when a mixture of male and female DNA (e.g., in vaginal swabs) is present in a sample, especially when DNA of the male contributor is present only in very small amount compared to the DNA of the female ...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2001-06-01 00:00:00
abstract:AIM:To retrospectively analyze the rate of multi-type abuse in childhood and the effects of childhood abuse and type of coping strategies on the psychological adaptation of young adults in a sample form the student population of the University of Mostar. METHODS:The study was conducted on a convenience sample of 233 s...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:10.3325/cmj.2010.51.406
更新日期:2010-10-01 00:00:00
abstract:AIM:To assess treatment outcomes of psychotherapy for war veterans suffering from posttraumatic stress disorder (PTSD) and to investigate self-perceived social acknowledgment. METHODS:In this prospective cohort study, a set of psychological instruments was used to assess the level of posttraumatic stress symptoms (Cli...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2007-04-01 00:00:00
abstract:AIM:To examine the feasibility of using peer review for the quality control of online materials. METHODS:We analyzed the inter-rater agreement on the quality of epidemiological lectures online, based on the Global Health Network Supercourse lecture library. We examined the agreement among reviewers by looking at kappa...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2007-04-01 00:00:00
abstract:AIM:To assess the incidence and timing of cardiac rupture following streptokinase (SK) administration in acute myocardial infarction (AMI). METHODS:We analyzed retrospectively the clinical sheets of AMI patients treated at the Coronary Care Unit in University Hospital Split, Croatia, between January 1, 1996, and Decem...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2000-09-01 00:00:00
abstract:AIM:To evaluate the results of current reforms in Macedonian health sector. METHOD:Description and situation analysis, covering the period 1991-1997, are focused on demographic and vital indicators, morbidity and mortality data, elements of health care system, legislation, health insurance, health care financing, and ...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:1999-06-01 00:00:00
abstract:AIM:To examine how 5-factor personality traits (extraversion, agreeableness, conscientiousness, neuroticism, and openness) and 3 higher-order health-related personality constructs (negative experience, optimistic control, and passivity) are related to self-reports of subjective health outcomes (positive and negative mo...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:10.3325/cmj.2009.50.394
更新日期:2009-08-01 00:00:00
abstract::The article considers available options to educate science editors in the fast-transforming digital environment. There is no single course or resource that can cover their constantly changing and diversifying educational needs. The involvement in research, writing, and reviewing is important for gaining editing skills...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:10.3325/cmj.2014.55.672
更新日期:2014-12-01 00:00:00
abstract:AIM:To investigate what Zagreb University students think about professor-student dating. METHODS:We surveyed 500 students from ten different Zagreb University schools using anonymous questionnaires. Twenty-five female and 25 male students from each school were asked to assess professor-student dating as either accepta...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2001-02-01 00:00:00
abstract:AIM:To assess the ability to work and employability of individuals taking part in opioid substitution treatment programs (OSTP). METHODS:The study was composed of two surveys. In the first survey, 237 of 480 patients enrolled in OSTP responded to the questionnaire about their employment status, opinion about employmen...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:10.3325/cmj.2008.49.842
更新日期:2008-12-01 00:00:00
abstract:AIM:To present our preliminary results with stentless aortic valve bioprostheses. METHODS:From November 2001 to February 2002, 15 patients (8 men and 7 women) underwent aortic valve replacement with aortic stentless bioprosthesis. The patients age ranged from 50 to 79 years (mean+/-SD, 63.3+/-5.7 years). Three patient...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2002-12-01 00:00:00
abstract:AIM:To determine the prevalence of bronchial asthma among Saudi Arabian schoolboys living in Al-Khobar city. METHODS:Parents of 1,482 randomly selected boys in preparatory and elementary schools included in this cross-sectional study filled out a questionnaire on asthma signs in their sons. Number of Questionnaire-Dia...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract::Academic medicine is usually considered to be a tripartite composition of teaching, research, and health care services delivery or patient care. The meaning of each component varies with interpretation. Developing countries such as Malawi face particular challenges in the field of academic medicine, including research...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2004-10-01 00:00:00
abstract::We analyzed forensic DNA samples from four cases of sexual assault, using the Y-chromosome-specific human DNA markers and a panel of autosomal short tandem repeats (STRs). The presence of male contribution was evaluated by the analysis of the Amelogenin locus. A panel of tetrameric Y-STR (DYS19, DYS390, DYS391, DYS392...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2003-06-01 00:00:00
abstract:AIM:To investigate breastfeeding practices among mothers of infants in the city of Mostar, Bosnia and Herzegovina. METHODS:The cross-sectional self-report study was conducted among 326 mothers of infants visiting the Advisory Center for Infants at the Medical Center in Mostar and at the Children's Department of Mostar...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2004-02-01 00:00:00
abstract:AIM:To study the association between genetic variants in myocilin and collagen type I alpha 1 genes and high myopia in an isolated island population. METHODS:A total of 944 examinees from the genetic epidemiology study conducted on the island of Korcula, Croatia, were included in the study. We selected 2 short nucleot...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:10.3325/cmj.2009.50.17
更新日期:2009-02-01 00:00:00
abstract:AIM:To examine the usefulness of molecular analysis of IgH gene rearrangement in assessment of clonality in bone marrow biopsies with lymphoid aggregates (LA) and/or nodular lymphoid hyperplasia (NLH) in patients with different subtypes of malignant lymphomas. METHOD:Five hundred and twenty nine samples of bone marrow...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2005-06-01 00:00:00
abstract:AIM:To investigate the influence of psychological and social factors on health risk behaviors, such as smoking, alcohol and psychoactive drug consumption among adolescents and to determine the prevalence of consuming various psychoactive substances. METHODS:The survey was conducted among adolescents in the Primorsko-g...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2005-02-01 00:00:00
abstract:AIM:To assess the effectiveness of the long-term group psychotherapy in the treatment of posttraumatic stress disorder (PTSD) in war veterans on the basis of clinical picture of PTSD, associated neurotic symptoms, and adopted models of psychological defense mechanisms. METHODS:Prospective cohort study involved 59 war ...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2006-02-01 00:00:00
abstract:AIM:To determine the prevalence of human immunodeficiency virus (HIV) infection in high-risk groups, ie, injecting drug users, patients with sexually transmitted infections, and men who have sex with men, and compare it with the prevalence determined in low-risk group, ie, pregnant women. METHODS:Residual sera from sp...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2003-10-01 00:00:00
abstract:AIM:To assess the quality of diabetes care provided by family medicine teams in primary health centers in Bosnia and Herzegovina (BH) through a medical audit, addressing the extent to which clinical practice complied with pre-determined explicit criteria of long-term management. METHOD:Retrospective analysis included ...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:10.3325/cmj.2008.49.757
更新日期:2008-12-01 00:00:00
abstract:AIM:To conduct developmental validation studies on a polymerase chain reaction (PCR) based short tandem repeat (STR) multiplex typing system, developed for the purpose of genetic individualization and parentage testing in domestic cat samples. METHODS:To evaluate reproducibility of the typing system, the multiplex was...
journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
更新日期:2007-08-01 00:00:00