Apert syndrom: a literature review and own clinical case

Acrocephalosyndactyly (ACS) is a group of multiple malformations, the main clinical manifestations of which are acrocephaly and syndactyly. The most common forms are Apert (type I), Pfeiffer (type V), Setra–Hotzen (type II) syndromes. Apert syndrome is the most explored and common form of all types of ACS and Apert syndrome is estimated to occur in 1 in: 100 000 newborns. The syndrome is inherited in an autosomal dominant manner. If the gene is carried by one of the parents, the risk of having a child with Apert syndrome is 50%. The syndrome genome (FGFR2) is located on the long arm of chromosome 10 at locus 10q26. Apert syndrome occurs due to mutations at this locus, but the children karyotype is not changed. The pathognomonic clinical signs of Apert syndrome are craniofacial dysostosis and symmetrical syndactyly of the hands and feet. Acrocephaly («tower skull») — is a consequence of early synostosis of some sutures of the skull. Orbital hypertelorism and exophthalmos are referred to typical facial changes. Among other abnormalities there are heart and vascular defects (25%), cleft palate, malformations of the gastrointestinal tract and kidneys. The diagnosis is made on the basis of clinical symptoms. No treatment has been developed. Life expectancy is short. Purpose — to present a clinical case of a newborn with Apert syndrome. Clinical case. Apert syndrome was suspected prenatally, confirmed after birth. The newborn girl had the characteristic signs of the above-described pathology: «tower head», hypertelorism, saddle bridge of the nose, closed large fontanelle, phalanges of the first finger were wide, the proximal phalanx was triangular, complete cutaneous syndactyly of the II–IV fingers was observed symmetrical on both upper extremities; on the lower extremities — thickening of the proximal phalanges of the big toes, complete cutaneous syndactyly of the II–IV toes. Conclusions. The article describes a clinical case of a child with Apert syndrome. Prenatal diagnosis takes one of the leading places in confirming genetic abnormalities, determining the prognosis for life. Genetic counseling for parents is necessary and important at all stages of pregnancy planning. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: Apert syndrome, children, prenatal diagnosis.

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Search for mutations of the interferon-induced transmembrane protein 5 (IFITM5) gene in patients with osteogenesis imperfecta

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2019.10.21-29 ◽

2019 ◽

pp. 21-29

Author(s):

А.Р. Зарипова ◽

Л.Р. Нургалиева ◽

А.В. Тюрин ◽

И.Р. Минниахметов ◽

Р.И. Хусаинова

Keyword(s):

Osteogenesis Imperfecta ◽

De Novo ◽

Transmembrane Protein ◽

Clinical Signs ◽

Clinical Manifestations ◽

Heterozygous Mutation ◽

Type I ◽

New Genes ◽

Wide Range ◽

Type V

Проведено исследование гена интерферон индуцированного трансмембранного белка 5 (IFITM5) у 99 пациентов с несовершенным остеогенезом (НО) из 86 неродственных семей. НО - клинически и генетически гетерогенное наследственное заболевание соединительной ткани, основное клиническое проявление которого - множественные переломы, начиная с неонатального периода жизни, зачастую приводящие к инвалидизации с детского возраста. К основным клиническим признакам НО относятся голубые склеры, потеря слуха, аномалия дентина, повышенная ломкость костей, нарушения роста и осанки с развитием характерных инвалидизирующих деформаций костей и сопутствующих проблем, включающих дыхательные, неврологические, сердечные, почечные нарушения. НО встречается как у мужчин, так и у женщин. До сих пор не определена степень генетической гетерогенности заболевания. На сегодняшний день известно 20 генов, вовлеченных в патогенез НО, и исследователи разных стран продолжают искать новые гены. В последнее десятилетие стало известно, что аутосомно-рецессивные, аутосомно-доминантные и Х-сцепленные мутации в широком спектре генов, кодирующих белки, которые участвуют в синтезе коллагена I типа, его процессинге, секреции и посттрансляционной модификации, а также в белках, которые регулируют дифференцировку и активность костеобразующих клеток, вызывают НО. Мутации в гене IFITM5, также называемом BRIL (bone-restricted IFITM-like protein), участвующем в формировании остеобластов, приводят к развитию НО типа V. До 5% пациентов имеют НО типа V, который характеризуется образованием гиперпластического каллуса после переломов, кальцификацией межкостной мембраны предплечья и сетчатым рисунком ламелирования, наблюдаемого при гистологическом исследовании кости. В 2012 г. гетерозиготная мутация (c.-14C> T) в 5’-нетранслируемой области (UTR) гена IFITM5 была идентифицирована как основная причина НО V типа. В представленной работе проведен анализ гена IFITM5 и идентифицирована мутация c.-14C>T, возникшая de novo, у одного пациента с НО, которому впоследствии был установлен V тип заболевания. Также выявлены три известных полиморфных варианта: rs57285449; c.80G>C (p.Gly27Ala) и rs2293745; c.187-45C>T и rs755971385 c.279G>A (p.Thr93=) и один ранее не описанный вариант: c.128G>A (p.Ser43Asn) AGC>AAC (S/D), которые не являются патогенными. В статье уделяется внимание особенностям клинических проявлений НО V типа и рекомендуется определение мутации c.-14C>T в гене IFITM5 при подозрении на данную форму заболевания. A study was made of interferon-induced transmembrane protein 5 gene (IFITM5) in 99 patients with osteogenesis imperfecta (OI) from 86 unrelated families and a search for pathogenic gene variants involved in the formation of the disease phenotype. OI is a clinically and genetically heterogeneous hereditary disease of the connective tissue, the main clinical manifestation of which is multiple fractures, starting from the natal period of life, often leading to disability from childhood. The main clinical signs of OI include blue sclera, hearing loss, anomaly of dentin, increased fragility of bones, impaired growth and posture, with the development of characteristic disabling bone deformities and associated problems, including respiratory, neurological, cardiac, and renal disorders. OI occurs in both men and women. The degree of genetic heterogeneity of the disease has not yet been determined. To date, 20 genes are known to be involved in the pathogenesis of OI, and researchers from different countries continue to search for new genes. In the last decade, it has become known that autosomal recessive, autosomal dominant and X-linked mutations in a wide range of genes encoding proteins that are involved in the synthesis of type I collagen, its processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells cause OI. Mutations in the IFITM5 gene, also called BRIL (bone-restricted IFITM-like protein), involved in the formation of osteoblasts, lead to the development of OI type V. Up to 5% of patients have OI type V, which is characterized by the formation of a hyperplastic callus after fractures, calcification of the interosseous membrane of the forearm, and a mesh lamellar pattern observed during histological examination of the bone. In 2012, a heterozygous mutation (c.-14C> T) in the 5’-untranslated region (UTR) of the IFITM5 gene was identified as the main cause of OI type V. In the present work, the IFITM5 gene was analyzed and the de novo c.-14C> T mutation was identified in one patient with OI who was subsequently diagnosed with type V of the disease. Three known polymorphic variants were also identified: rs57285449; c.80G> C (p.Gly27Ala) and rs2293745; c.187-45C> T and rs755971385 c.279G> A (p.Thr93 =) and one previously undescribed variant: c.128G> A (p.Ser43Asn) AGC> AAC (S / D), which were not pathogenic. The article focuses on the features of the clinical manifestations of OI type V, and it is recommended to determine the c.-14C> T mutation in the IFITM5 gene if this form of the disease is suspected.

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First description of a type v osteogenesis imperfecta clinical case with severe skeletal deformities caused by a mutation p.119C> T in IFITM5 gene in Russia

Osteoporosis and Bone Diseases ◽

10.14341/osteo12103 ◽

2020 ◽

Vol 22 (2) ◽

pp. 32-37

Author(s):

Tatiana A. Grebennikova ◽

Alina O. Gavrilova ◽

Anatoly N. Tiulpakov ◽

Natalya V. Tarbaeva ◽

Zhanna E. Belaya ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Clinical Case ◽

Clinical Symptoms ◽

Bone Matrix ◽

Clinical Manifestations ◽

Connective Tissue Disorder ◽

Mineral Density ◽

Main Component ◽

Type V ◽

Skeletal Deformation

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. Main clinical manifestations include recurring pathological fractures and progressive skeletal deformation. Five types of OI are distinguished based on clinical symptoms. In most cases, the disease is caused by mutations in the COL1A1 and COL1A2 genes, leading to a defect of type 1 collagen synthesis, which is the main component of the bone matrix. Up to 5% of patients with OI have a mutation in IFITM5 gene, which leads to the development of OI type V. Approximately 150 cases of the OI type V are described in the literature, and mutation c.-14C T in IFITM5 gene is found in most of the cases. Only 5 patients have a c.119C T: p.S40L.mutation. Pathogenesis of OI type V is not fully understood. It is assumed that mutations in the IFITM5 gene cause impaired osteoblastogenesis, decreased bone mineral density and multiple low-traumatic fractures. There is probably a phenotype-genotypic correlation in cases with different mutations of the IFITM5. However, it is currently difficult to assess the relationship in view of the variability of the characters and the low prevalence of the OI type V. We present the first description in Russia of the clinical case of an adult patient with OI type V due to a rare mutation p.119C T: p.S40L in the IFITM5 gene.

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Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome

BMC Musculoskeletal Disorders ◽

10.1186/s12891-020-03812-2 ◽

2020 ◽

Vol 21 (1) ◽

Author(s):

Alexandra Stauffer ◽

Sebastian Farr

Keyword(s):

Treatment Options ◽

Proximal Phalanx ◽

Apert Syndrome ◽

Wedge Osteotomy ◽

Foot Deformities ◽

Complete Fusion ◽

Type I ◽

Great Toe ◽

Plantar Pressures ◽

Hands And Feet

Abstract Background Apert syndrome is characterised by the presence of craniosynostosis, midface retrusion and syndactyly of hands and feet, thus, synonymously referred to as acrocephalosyndactyly type I. Considering these multidisciplinary issues, frequently requiring surgical interventions at an early age, deformities of the feet have often been neglected and seem to be underestimated in the management of Apert syndrome. Typical Apert foot features range from complete fusion of the toes and a central nail mass to syndactyly of the second to fifth toe with a medially deviated great toe; however, no clear treatment algorithms were presented so far. This article reviews the current existing literature regarding the treatment approach of foot deformities in Apert syndrome. State-of-the-art topic review Overall, the main focus in the literature seems to be on the surgical approach to syndactyly separation of the toes and the management of the great toe deformity (hallux varus). Although the functional benefit of syndactyly separation in the foot has yet to be determined, some authors perform syndactyly separation usually in a staged procedure. Realignment of the great toe and first ray can be performed by multiple means including but not limited to second ray deletion, resection of the proximal phalanx delta bone on one side, corrective open wedge osteotomy, osteotomy of the osseous fusion between metatarsals I and II, and metatarsal I lengthening using gradual osteodistraction. Tarsal fusions and other anatomical variants may be present and have to be corrected on an individual basis. Shoe fitting problems are frequently mentioned as indication for surgery while insole support may be helpful to alleviate abnormal plantar pressures. Conclusion There is a particular need for multicenter studies to better elaborate surgical indications and treatment plans for this rare entity. Plantar pressure measurements using pedobarography should be enforced in order to document the biomechanical foot development and abnormalities during growth, and to help with indication setting. Treatment options may include conservative means (i.e. insoles, orthopedic shoes) or surgery to improve biomechanics and normalize plantar pressures. Level of evidence Level V.

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A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female

International Healthcare Research Journal ◽

10.26440/ihrj/0311.02318 ◽

2020 ◽

Vol 3 (11) ◽

pp. 352-354

Author(s):

Pooja Gaur

Keyword(s):

Case Report ◽

Clinical Care ◽

Open Bite ◽

Apert Syndrome ◽

Facial Features ◽

Type I ◽

Anterior Open Bite ◽

Rare Type ◽

Patient Reported ◽

Hands And Feet

Defined as a rare type I acrocephalosyndactyly syndrome which is clinically characterized by dysmorphic facial features, craniosynostosis, and severe syndactyly of the hands and feet, Apert Syndrome represents an autosomal dominant inheritance which occurs due to the gene mutations in the receptors of the fibroblast growth factor. Oral lesions include tooth crowding, reduction in the size of the maxilla, impacted teeth, anterior open-bite, ectopic eruption, delayed eruption, thick gingiva and supernumerary teeth. The present case report describes a 58 year old female patient reported with the features of Apert’s syndrome such as dysmorphic facial features, occular anomalies, syndactyly and oral features. The case was referred to a specialized centre of clinical care for further treatment.

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Clinical characteristics of COVID-19 in children compared with adults in Shandong, China

10.21203/rs.3.rs-17119/v1 ◽

2020 ◽

Author(s):

Wenjun Du ◽

Jinhong Yu ◽

Hui Wang ◽

Xiaoguo Zhang ◽

Shouwei Zhang ◽

...

Keyword(s):

Clinical Laboratory ◽

Health Workers ◽

Clinical Symptoms ◽

Clinical Signs ◽

Clinical Manifestations ◽

Case Series ◽

Signs And Symptoms ◽

Asymptomatic Patients ◽

Positive Indicators ◽

Clinical Signs And Symptoms

Abstract Aims & Background: The COVID-19 outbreak spread in China and is a threat to the world. We reported on the epidemiological, clinical, laboratory, and radiological characteristics of children cases to help health workers better understand and provide timely diagnosis and treatment.Methods: Retrospectively, two research centers’ case series of 67 consecutive hospitalized cases including 14 children cases with COVID-19 between 23 Jan 2020 to 15 Feb 2020 from Jinan and Rizhao were enrolled in this study. Epidemiological, clinical, laboratory, and radiological characteristics of children and adults were analyzed and compared.Results: Most cases in children were mild(21.4%) and conventional cases(78.6%), with mild clinical signs and symptoms, and all cases were of family clusters. Fever (35.7%) and dry cough(21.4%) were described as clinical manifestations in children cases. Dry cough and phlegm were not the most common symptoms in children compared with adults(p=0.03). In the early stages of the disease, lymphocyte counts did not significantly decline but neutrophils counts did in children compared with adults(p=0.00).There was an elevated level of LDH(p=0.01) and a lower level of CRP(p=0.00)and IL-6(p=0.01) in children compared with adults. There were 8 (57.1%)asymptomatic cases and 6 (42.9%)symptomatic cases among the 14 children cases. The age of asymptomatic patients was younger than that of symptomatic patients(p=0.03). Even among asymptomatic patients, 5(62.5%)cases had pneumonia including 3 (60%) cases with bilateral pneumonia, which was not different compared with that of asymptomatic cases(p=0.58, p=0.74).Conclusions: The clinical symptoms of children are mild, and the positive indicators of laboratory tests are rare, which may easily cause clinical misdiagnoses.

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Challenges of the differential diagnosis between the subtypes of the junctional epidermolysis bullosa: presentation of two clinical cases

Almanac of Clinical Medicine ◽

10.18786/2072-0505-2019-47-009 ◽

2019 ◽

Vol 47 (1) ◽

pp. 83-93

Author(s):

Yu. Yu. Kotalevskaya ◽

N. M. Marycheva

Keyword(s):

Differential Diagnosis ◽

Epidermolysis Bullosa ◽

Skin Disease ◽

Clinical Case ◽

Molecular Genetic ◽

Clinical Signs ◽

Clinical Manifestations ◽

Junctional Epidermolysis Bullosa ◽

Reliable Determination ◽

Clinical Cases

Background: Epidermolysis bullosa (EB) is a rare hereditary skin disease. It is subdivided into EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. JEB is diagnosed in 2 per 1,000,000 of the population. There are few descriptions of clinical JEB cases in the literature. Clinical diagnosis of JEB and its subtypes is a challenge, especially in the early age. The paper presents 2 clinical cases of JEB in patients of the West Slavonic origin. Clinical case No. 1 was a girl of Ukrainian ethnicity, with confirmed definitive diagnosis of severe generalized JEB. Molecular genetic tests identified mutations of the LAMA3 gene that had not been described previously. The patient died at the age of 24 months from acute respiratory failure. When the patient was alive, her EB type and subtype was not possible to identify, because she had a combination of clinical manifestations typical for various JEB subtypes. Despite such symptoms as hoarse voice, stenoses, granulation tissue of typical location, laryngeal granulations, the girl was steadily gaining weight, with some periods of relative stabilization of the skin disease; she also had longer life longevity than was common for patients with severe generalized JEB. All this made a precise diagnosis difficult. Clinical case No. 2: an ethnic Russian boy with non-classified JEB. Molecular genetic testing helped to identify a homozygote mutation in the LAMA3 gene that had not been previously described; reliable determination of the subtype was not possible. The patient had mixed clinical manifestation similar both to generalized severe JEB and to laryngo-onycho-cutaneous (LOC) syndrome. During his lifetime, the patient was clinically diagnosed with Hallopeau acrodermatitis and LOC syndrome. The differential diagnostic problems were associated with the presence of signs not typical for each of the subtypes. Significant life longevity of the proband is not characteristic for severe generalized JEB (at the time of the publication the patient is 13 years old), whereas for LOC syndrome the absence of eye involvement is not typical, as well as severe laryngeal involvement at adolescence.Conclusion: Detailed descriptions of phenotype of JEB subtypes including rare and minimal clinical signs can be useful to study the clinical manifestations and natural course of the disease, including its differential diagnosis.

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Clinical manifestations of cow milk protein intolerance in infants

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh0508348m ◽

2005 ◽

Vol 133 (7-8) ◽

pp. 348-352

Author(s):

Marija Mladenovic ◽

Nedeljko Radlovic ◽

Zoran Lekovic ◽

Dragana Ristic ◽

Dragana Zivanovic ◽

...

Keyword(s):

Milk Protein ◽

Wide Spectrum ◽

Clinical Signs ◽

Clinical Manifestations ◽

Signs And Symptoms ◽

Cow Milk ◽

Type I ◽

Digestive Disorders ◽

Clinical Signs And Symptoms ◽

Protein Intolerance

Introduction. The disorder of cow milk protein intolerance is characterized by a wide spectrum of clinical manifestations caused by hypersensitivity of type I, II, or IV, and occurs in 2-3% of children, mostly infants. Objective. The aim of this study was to present our experiences and observations of clinical signs and symptoms of cow milk protein intolerance in infants aged below 12 months. Method. The investigation was carried out on a sample of 55 infants, aged between 1.5-9 months (x=4.2l?1.25), who had cow milk protein intolerance. Diagnosis of illness was based on characteristic anamnestic, clinical, and laboratory parameters, as well as on an adequate patient's response to antigen elimination. Results. The clinical presentation of cow milk protein intolerance was dominated by cutaneous problems, found in 40/55 (72.73%) infants, followed by digestive disorders, found in 31 (56.36%), while respiratory tract disorders were observed least frequently (14.55%). None of the patients developed anaphylactic shock. Changes involving only one system were found in 35 (63.64%) patients; of these 20 (36.36%) were cutaneous and 15 (27.27%) digestive. Twenty (36.36%) infants displayed multisystemic changes; of these 12 were cutaneus with digestive, 4 were cutaneus with respiratory, while 4 infants had cutaneous, digestive, and respiratory disorders. Of the 55 infants with cow milk protein intolerance, 26 (47.27%) had urticaria, 22 (40.00%) perioral erythema, 21 (38.18%) diarrhoea (15 haemorrhagic, 6 non-haemorrhagic), 13 (23.64%) vomiting, 12 (21.82%) Quincke's oedema, 12 (21.82%) eczema, 5 (9.09%) obstructive bronchitis, while 3 (5.45%) infants had laryngitis. In 5 (9.09%) patients we found a significant body weight deficit and in 3 (5.45%), sideropenic anaemia, while longitudinal growth retardation was not registered in any of the patients. Conclusion. Our study showed that the disorder of cow milk protein intolerance predominantly involved cutaneous disorders as well as combinations of cutaneous and digestive disorders, while respiratory system disorders proved to be relatively rare.

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Clinical manifestations, laboratory markers, and renal ultrasonographic examinations in 1-month to 12-year-old Iranian children with pyelonephritis: a six-year cross-sectional retrospective study

BMC Infectious Diseases ◽

10.1186/s12879-021-05887-1 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Daryoosh Fahimi ◽

Leila Khedmat ◽

Azadeh Afshin ◽

Zahra Noparast ◽

Maryam Jafaripor ◽

...

Keyword(s):

Urinary Tract ◽

Early Diagnosis ◽

Clinical Symptoms ◽

Clinical Signs ◽

Clinical Manifestations ◽

Ureteral Stones ◽

Cross Sectional ◽

Laboratory Markers ◽

Febrile Uti ◽

Iranian Children

Abstract Background Upper urinary tract infection (UTI) or pyelonephritis may increase the pathogenesis rate and risk of severe complications in children due to kidney atrophy. Objective A set of clinical symptoms, laboratory markers, and ultrasound findings were assessed to achieve the early diagnosis and prognosis of pyelonephritis in hospitalized pediatrics. Methods A cross-sectional study with 104 Iranian children (95 girls and 9 boys) aged 1 month to 12 years with acute pyelonephritis during 2012–2018 was conducted. The ultrasound examination of kidneys and urinary tract during hospitalization, the incidence of clinical symptoms, and laboratory markers in blood and urine were monitored to identify the best predictive factors of early diagnosis of this bacterial infection. Results Three-fourth of the patients had one of the four clinical symptoms of abdominal pain, constipation, dysuria, and vomiting, while others were asymptomatic. A much frequency of pyuria (88.46%), Escherichia coli in urine (92.31%), leukocytosis (81.73%), and high ESR (> 10 mm/h, 92.30%) and CRP (> 10 mg/L, 82.82%) was observed. The kidney and urinary tract ultrasonography only in 32.7% of children revealed findings in favor of pyelonephritis (cystitis, ureteral stones, and hydronephrosis). Conclusion There was a high frequency of clinical signs and laboratory markers associated with pyelonephritis. Ultrasound alone was not an efficient tool to track febrile UTI as most patients presented normal sonography.

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Relationship Between Rhinitis, Asthma, and Eczema and the Presence of Sensitization in Young Swiss Adults

Allergy & Rhinology ◽

10.1177/2152656718773606 ◽

2018 ◽

Vol 9 ◽

pp. 215265671877360 ◽

Cited By ~ 1

Author(s):

Urs C. Steiner ◽

Lucas M. Bachmann ◽

Micheal B. Soyka ◽

Stephan Regenass ◽

Lukas Steinegger ◽

...

Keyword(s):

Clinical Symptoms ◽

Allergic Sensitization ◽

Clinical Signs ◽

Clinical Manifestations ◽

Rapid Test ◽

Signs And Symptoms ◽

Causative Factor ◽

Common Disease ◽

Common Symptom ◽

Perennial Rhinitis

Background Rhinitis is a very common disease with allergies being the most frequent causative factor. It can co-occur together with asthma and eczema in atopic as well as in nonatopic patients. Objectives To assess the prevalence of allergic sensitization within patient groups with rhinitis in consideration of the co-occurring disorders of asthma and eczema. Methods Students of the third year of medical school completed an anonymous questionnaire on age, gender, and clinical symptoms, such as seasonal rhinitis, perennial rhinitis, asthma, and eczema, and underwent an ImmunoCAP Rapid test. We calculated the prevalence of sensitization within subgroups of patients reporting allergic disorders, such as rhinitis, asthma, and eczema. Results Questionnaires and ImmunoCAP Rapid tests of 1513 medical students were analyzed. The participants’ self-reported presence of seasonal/perennial rhinitis, asthma, and eczema was compared to the presence of sensitization. Data of 1467 subjects could be analyzed. Seasonal rhinitis was the most common symptom, followed by eczema, asthma, and perennial rhinitis. The participants were differentiated into 16 subgroups according to the combined clinical manifestations of the different symptoms and association to sensitization within subgroups. The prevalence of sensitization ranged from 18% in subjects reporting only eczema without any other symptom to 100% in those reporting to have asthma, seasonal/perennial rhinitis, and eczema together. In subjects reporting no sign or symptom at all, the prevalence of sensitization was 19%. Seasonal rhinitis was the strongest single predictor for sensitization with the highest proportion of sensitized participants in all symptom combinations (67%–100%), followed by perennial rhinitis (31%–100%), asthma (30%–100%), and eczema (18%–100%). Conclusion Rhinitis most often is associated with allergen sensitization, and the probability of sensitization is substantially enhanced by co-occurrence of asthma. A careful assessment of clinical signs and symptoms is important and enables the selection of patients in whom targeted diagnostic analysis and therapy is appropriate. Trial registration: retrospectively registered by the Cantonal Ethics Committee Zurich on 22.01.2016; Nr: 08-2016.

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Receptors, antibodies, and disease.

Clinical Chemistry ◽

10.1093/clinchem/30.7.1137 ◽

1984 ◽

Vol 30 (7) ◽

pp. 1137-1156 ◽

Cited By ~ 20

Author(s):

M Blecher

Keyword(s):

Autoimmune Diseases ◽

Clinical Symptoms ◽

Type I Diabetes ◽

Neurological Diseases ◽

Clinical Signs ◽

Connective Tissue Diseases ◽

Chronic Atrophic Gastritis ◽

Point Of View ◽

Type I ◽

Potential Marker

Abstract Abnormal antibody production is now recognized as the basis of specific endocrine and neurological diseases and their complications. Among the autoimmune diseases, the best understood from a mechanistic point of view are myasthenia gravis, Graves' disease, several variants of insulin resistance, and a variant of bronchial asthma. In each of these human disorders, the clinical symptoms can be traced to the actions of antireceptor antibodies produced by a deranged immune system. The autoantibodies produced in these diseases are functionally heterogeneous. They may produce the clinical symptoms of hormone or neurotransmitter insufficiency either by blocking the binding of these agents to target cell surface receptors or by accelerating the internalization and degradation of these receptors. In other cases, the autoantibodies may produce the clinical signs of hormone excess by mimicking the actions of the hormone, in an uncontrollable fashion. In some cases, functionally different types of autoantibodies will appear in the same patient at different stages of the disease. For all of these autoantibodies, of whatever function, assays for their presence in serum are available, in forms suitable for clinical chemists, as well as for researchers; these will be described in this review. In addition to the known anti-receptor autoimmune diseases, there are a large number of other autoimmune diseases for which there is fragmentary evidence that their clinical symptoms have an anti-receptor autoantibody etiology. Several examples of this group will be discussed, and assays suitable for establishing the presence of anti-receptor antibodies in the sera of such patients will be provided. The disorders to be considered are: type I diabetes mellitus, chronic atrophic gastritis, autoimmune Addison's disease, autoimmune hypoparathyroidism, type II pseudohypoparathyroidism, resistant ovary syndrome, connective tissue diseases, and the HLA-B8/DR3 antigen haplotype as a potential marker for autoimmune diseases of the anti-receptor type.

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