Acute intermittent porphyria: familial disease cases (clinical observation)

2021 ◽  
pp. 28-39
Author(s):  
Nadezhda Viktorovna Kurkina ◽  
Vsevolod Vladimirovich Skvortsov ◽  
Ella Ivanovna Polozova ◽  
Valeriya Aleksandrovna Vyshinskaya
Keyword(s):  
Nervous System ◽  
Targeted Therapy ◽  
Clinical Response ◽  
Clinical Case ◽  
Clinical Observation ◽  
Autosomal Dominant ◽  
Acute Intermittent Porphyria ◽  
Autosomal Dominant Disorder ◽  
Mental Symptoms ◽  
Excessive Accumulation

Acute intermittent porphyria is a rare autosomal dominant disorder characterized by excessive accumulation and excretion of porphyrins and their precursors, repeated attacks of neurological and mental symptoms. Due to the rarity of this pathology and the atypical course in the onset, certain difficulties often arise during the initial diagnosis. The main pathogenetic drug is gemin (Normosang), which allows obtaining a stable clinical response and preventing the development of severe changes in the nervous system. This article presents an analysis of a clinical case of acute intermittent porphyria among blood relatives and discusses the effectiveness of targeted therapy.

COVID-19-associated orthostatic hypotension syndrome: direct and indirect mechanisms of development

2021 ◽  
Vol LIII (3) ◽  
pp. 64-70
Author(s):  
Elena G. Mendelevich ◽  
Alsu A. Saifeeva ◽  
Artur I. Kurbanov
Keyword(s):  
Nervous System ◽  
Orthostatic Hypotension ◽  
Clinical Case ◽  
Clinical Observation ◽  
Thrombus Formation ◽  
Correct Diagnosis ◽  
Aim Analysis ◽  
Angiotensin Converting Enzyme 2 ◽  
Mechanisms Of Development ◽  
Near Future

Background. The article presents an observation of the clinical case of orthostatic hypotension that developed after an infection caused by the SARS-CoV-2 virus. The issues of etiology, pathogenesis, diagnosis are outlined. The complexity of diagnosis at the stage of clinical observation is due to the comorbidity of possible mechanisms and the difficulty of determining the primary factor. Taking into account the study of variants of direct and indirect action of this 2019-nCoV, the description of the clinical observation of orthostatic hypotension supplements the data on the spectrum of manifestations of this disease. Aim. Analysis of the clinical case of the development of orthostatic hypotension in the post-acute period of COVID-19. Material. When conducting a literature review on the selected topic, various sources were considered. The search depth was over 7 years. For the recruitment of literature, Internet platforms UpToDate, PubMed, Medscape were used. Russian and foreign sources were studied. Methods. Anamnesis collection, objective research, specialized tests, laboratory and instrumental research methods, study of disease history, literature sources on orthostatic hypotension and the effect of COVID-19 on the autonomic nervous system. Results. The analysis of this case with the determination of the leading mechanism of orthostatic hypotension is extremely difficult. Probably, there is a combination of factors: direct and indirect effects on the nervous system at COVID-19. The direct effect is associated with the interaction of the virus with the angiotensin converting enzyme 2 receptors in the nervous system, which causes a significant increase in the concentration of bradykinin and the development of hypotension. An indirect effect is due to both increased thrombus formation with the development of PE, and autonomic dysfunction, within the framework of secondary polyneuropathy of fine fibers. Conclusion. It is likely that in the near future the number of such patients in the practice of doctors will increase, therefore, timely and correct diagnosis of these conditions, with their careful management, will be the fundamental postulates in the recovery of patients. Drawing attention to this topic will possibly expand our understanding of the spectrum of complications of COVID-19 and will greatly complement the information available today.

scholarly journals Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene

2020 ◽  
Author(s):  
xiaoqing li ◽  
fei han ◽  
qianlong chen ◽  
tienan zhu ◽  
yongqiang zhao ◽  
...  
Keyword(s):  
Biosynthetic Pathway ◽  
Autosomal Dominant ◽  
Stop Codon ◽  
Novel Mutation ◽  
Acute Intermittent Porphyria ◽  
Porphobilinogen Deaminase ◽  
Autosomal Dominant Disorder ◽  
Splenial Lesion ◽  
Partial Deficiency ◽  
Reversible Splenial Lesion Syndrome

Abstract Background: Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause of RESLES is unknown. However, infectious-related mild encephalitis/encephalopathy (MERS) with a reversible splenial lesion remains the most common cause of reversible splenial lesions. Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system. Result: In this study, we report a 20-year-old woman with AIP who presented with MRI manifestations suggestive of RESLES, she had a novel HMBS nonsense mutation, a G to A mutation in base 594, which changed tryptophan to a stop codon (W198*). Conclusion: To the best of our knowledge, this is only one published case of RELES associated with AIP.

scholarly journals Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of theTBX5Mutation

2013 ◽  
Vol 2013 ◽  
pp. 1-2
Author(s):  
Noel J. Aherne ◽  
Guhan Rangaswamy ◽  
Pierre Thirion
Keyword(s):  
Prostate Cancer ◽  
Cell Proliferation ◽  
Gene Family ◽  
Tumour Cell ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
T Box ◽  
Proliferation And Metastasis ◽  
Cell Proliferation And Metastasis

Holt-Oram syndrome is an autosomal dominant disorder which is caused by mutations ofTBX5and is characterised by cardiac and skeletal abnormalities.TBX5is part of the T-box gene family and is thought to upregulate tumour cell proliferation and metastasis when mutated. We report the first clinical case of prostate cancer in an individual with Holt Oram syndrome.

Effectiveness of targeted therapy for kidney damage with tuberous sclerosis in a child (clinical case)

2021 ◽  
Vol 25 (4) ◽  
pp. 90-94
Author(s):  
S. L. Morozov ◽  
O. R. Piruzieva ◽  
V. V. Dlin
Keyword(s):  
Chronic Kidney Disease ◽  
Targeted Therapy ◽  
Tuberous Sclerosis ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Mtor Inhibitors ◽  
Kidney Damage ◽  
Early Age ◽  
Risk Of Bleeding ◽  
Genetically Determined

Tuberous sclerosis is a polysystemic, genetically determined, autosomal dominant orphan disease that affects approximately 1 in 10,000 people worldwide. Kidney damage in tuberous sclerosis is the leading cause of death due to serious complications, the most common of which is angiomyolipoma bleeding. A feature of renal angiomyolipomas is that they begin to progress and increase in volume from an early age, leading to the progression of chronic kidney disease, while angiomyolipomas more than 30 mm in diameter are at risk of bleeding. Currently, pharmacotherapy of tuberous sclerosis with mTOR inhibitors is the most effective worldwide. In this article, a clinical case of targeted therapy of tuberous sclerosis is presented, the effectiveness is demonstrated, and the features of the course of tuberous sclerosis are also given on a specific example.

scholarly journals Mild Encephalitis/Encephalopathy with Reversible Splenial Lesion (MERS) due to Acute Intermittent Porphyria with a novel mutation in the porphobinoglien deaminase gene

2020 ◽  
Author(s):  
xiaoqing li ◽  
fei han ◽  
qianlong chen ◽  
tienan zhu ◽  
yongqiang zhao ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Stop Codon ◽  
Novel Mutation ◽  
Acute Intermittent Porphyria ◽  
Porphobilinogen Deaminase ◽  
Splicing Mutation ◽  
Autosomal Dominant Disorder ◽  
The Third ◽  
Splenial Lesion ◽  
Partial Deficiency

Abstract Background: Mild encephalopathy with a reversible splenial lesion (MERS) is a clinico-radiological syndrome characterized by a reversible isolated lesion with transiently reduced diffusion in the central portion of the splenium of the corpus callosum (SCC). The reason for MERS is unknown. however, infectious-related MERS (in particular virus) remains the most common cause of reversible splenial lesions. Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the of hemebiosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system. Result: In this study, we report a 20-year-old woman with AIP who presented with MR manifestations suggestive of MERS, she had a novel PBGD splicing mutation, a G to A mutation in base 594 resulting in tryptophan to a stop codon (W198*). Conclusion: To the best of our knowledge, this is only one published case of MERS associated with AIP.

scholarly journals Loeys–Dietz syndrome (literature review and case description)

2020 ◽  
Vol 8 (1) ◽  
pp. 83-94
Author(s):  
Olga E. Agranovich ◽  
Sergey Yu. Semenov ◽  
Eugeniya F. Mikiashvili ◽  
Svetlana V. Sarantseva
Keyword(s):  
Differential Diagnosis ◽  
Connective Tissue ◽  
Literature Review ◽  
Clinical Case ◽  
Multidisciplinary Approach ◽  
Clinical Observation ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Dynamic Monitoring ◽  
Case Description

Background. The LoeysDietz syndrome is a rare autosomal dominant connective tissue disorder characterized by the pathology of the cardiovascular system in combination with various anomalies of the musculoskeletal system. In modern literature, there is neither any information about the frequency of pathology nor any algorithm of examination and treatment for patients with this syndrome. Clinical case. The article presents a clinical observation of a 7-year-old patient with LoeysDietz syndrome with a genetically confirmed diagnosis. Discussion. This article provided a literature review, examined diagnosis issues and differential diagnosis, and presented the clinical picture of the syndrome. The main symptoms of LoeysDietz syndrome are artery aneurysms (most often in the aortic root), arterial tortuosity (mainly the vessels of the neck), hypertelorism, and bifid (split) or broad uvula. However, the combination of these symptoms is not found in all patients with this disease. Conclusions. The article emphasized the importance of a genetic verification of the disease, as well as a multidisciplinary approach to treatment with mandatory dynamic monitoring by specialists such as a cardiologist, neurologist, orthopedist, and pediatrician, which help prevent the development of complications and increase the life expectancy of this group of patients.

scholarly journals Contemporary views on disorders of neuromiyelitis optica spectrum. Clinical case from personal practice

2021 ◽  
pp. 90-94
Author(s):  
Svitlana Shkrobot ◽  
Olena Budarna ◽  
Khrystyna Duve ◽  
Nataliya Tkachuk ◽  
Lyubov Milevska-Vovchyk
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Case ◽  
Clinical Observation ◽  
Demyelinating Disease ◽  
Survey Methods ◽  
Demyelinating Diseases ◽  
Research Issue ◽  
Scientific Report

Neuromyelitis optica (Devic’s disease) is a demyelinating disease of central nervous system. This disease is progressive and might be fatal. The authors have analyzed data of domestic and foreign literature on research issue. The idea of modern laboratory and instrumental survey methods was summarized, because clinical manifestation of the disease may be non-specific and differential searching might be extremely wide. The modern schemes of treatment of described syndrome are represented. As an illustration we used own clinical observation confirmed by the results of neuroimaging. The practical orientation of the represented scientific report is proved. Key words neuromiyelitis optica, differential diagnosis, antibodies to aquaporin-4, demyelinating diseases

scholarly journals Clinical experience of observation and tactics of management of a patient with ectodermal angydrotic dysplasia

2021 ◽  
Vol 24 (2) ◽  
pp. 179-186
Author(s):  
Elena Y. Startseva ◽  
Olga V. Bobrova ◽  
Olga I. Letyaeva ◽  
Oleg R. Ziganshin ◽  
Ksenia K. Zakomoldina
Keyword(s):  
Nervous System ◽  
Autosomal Recessive ◽  
Clinical Observation ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Ectodermal Dysplasias ◽  
Wide Range ◽  
Epidermal Growth ◽  
Mode Of Inheritance ◽  
Autosomal Recessive Manner

The concept of ectodermal dysplasias covers a group of rare hereditary developmental anomalies that have a variety of phenotypic variants, but are characterized by common signs of underdevelopment or abnormal formation of organs and tissues derived from the ectodermal layer (skin and its derivatives - nails, hair, teeth, nervous system and sensory organs) ... Approximately 25% of ectodermal dysplasias known to date are inherited in an autosomal dominant or autosomal recessive manner; in other cases, the mode of inheritance is unclear. The syndrome is characterized by a wide range of clinical manifestations and may include additional symptoms of damage to other ectodermal, mesodermal, and endodermal structures. Ectodermal anomalies are a manifestation of disturbances in spatial-temporal coordination during the development of the epidermis. They involve genes such as EGF (epidermal growth factor), ED1 (ectodisplasin), EDAR (anhydrotic receptor ectodysplasin 1) and others that regulate the activity of genes involved in epidermal morphogenesis by activating or suppressing transcription factors (in particular, pb3; Koster). So far, only about 20% of genes have been identified that are responsible for about 200 ectodermal dysplasias of various symptoms and severity. This article describes the clinical observation of a patient with a rare disease - ectodermal anhydrotic dysplasia. The literature data on the clinical features of the course of this dermatosis, as well as the features of the course in this patient are presented.

Clinical case of periostitis in pregnant women complicated by sepsis

2020 ◽  
pp. 61-63
Author(s):  
S. Sh. Kakvaeva ◽  
M. A. Magomedova ◽  
A. N. Dzhalilova
Keyword(s):  
Pregnant Woman ◽  
Multiple Organ Failure ◽  
Pregnant Women ◽  
Organ Failure ◽  
Clinical Case ◽  
Clinical Observation ◽  
Infectious Agent ◽  
Modern Medicine ◽  
Multiple Organ ◽  
Number Of Patients

One of the most serious problems of modern medicine is sepsis. The number of patients undergoing this complication is 20–30 million (WHO) annually and has no tendency to decrease. Sepsis is characterized by severe multiple organ failure due to a violation of the response of the macroorganism to an infectious agent. Moreover, it is dangerous with high mortality. Sepsis often develops in patients with immunodeficiency conditions, which primarily include pregnant women. The article presents a clinical observation of a case of periostitis in a pregnant woman complicated by a septic state.

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