Nephronophthisis - cause of chronic kidney disease in childhood. case report

Хроничното бъбречно заболяване (ХБЗ) в педиатричната популация се увеличава. Ранното откриване и лечение могат да намалят прогресията на бъбречните заболявания и да помогнат за превенцията на хронифицирането им. Дял за хронифициране на ХБЗ са наследствените заболявания.Нефронофтизата представлява наследствено бъбречно заболяване, характеризиращо се с хроничен тубуло-интерстициален нефрит, който може да се прояви в ранна детска възраст и в зависимост от формата да прогресира до терминална хронична бъбречна недостатъчност (ХБН).Водещи клинични прояви са: полиурия, полидипсия, анемия. Представяме клиничен случай на дете на 3 г. 9 м., често боледуващо от инфекции на горни дихателни пътища, станали повод за хоспитализация. От изследванията: Hb 80 g/l, урея 12 mmol/l, креатинин 156 μmol/l, урина - лекостепенна протеинурия, относително тегло 1010.От ултразвуковото изследване: двустранно бъбреци, гранични размери, повишена ехогенност на паренхима, данни за хипоехогенни зони в медулата, наподобяващи кистички. От направената биопсия: данни за атрофия на бъбречните тубули, с уплътняване на места на бъбречния интерстициум и единични кисти в медулата.Въз основа на клиничните прояви и резултатите от изследванията е поставена диагноза: нефронофтиза на Фанкони. Предвид малката възраст на детето и наличието на начален стадий на ХБЗ се налага адекватно проследяване и лечение с цел намаляване прогресията на ХБЗ.Chronic kidney disease (CKD) in the pediatric population increases. Early detection and treatment can reduce the progression of kidney diseases (KD) and help with the prevention of their chronification. Among the reasons for chronification of KD are hereditary diseases.Nephronophthisis is a hereditary kidney disease characterized by chronic tubulointerstitial nephritis which can manifest in infancy and depending on the type - progress to end-stage CKD. Leading clinical manifestations are: polyuria, polydipsia, anemia.We present a case of a child of 3 years. 9m., often suffering from infections of the upper respiratory tract. One of those infections became a reason for hospitalization. From laboratory tests: Hb 80 g/l, urea 12 mmol/l, creatinine 156 μmol/l, urine - mild proteinuria, density 1010.Ultrasonography results: bilateral kidneys, border sized, increased renal parenchymal echogenicity, data for hypoechoic areas in the medulla resembling small cysts.Biopsy results: evidence of atrophy of the renal tubules, increased incidence of interstitial cells in the renal interstitium, single cysts in the medulla. Based on the clinical manifestations and the results of lab tests the patient is diagnosed with nephronophthisis (NPH1). Given the child`s young age and the presence of early stages of CKD sufficient monitor ing and treatment are needed to reduce the progression of CKD

Chronic Kidney Disease, Bone Changes and Physiotherapy

Chronic Kidney Disease (CKD) is a complex, multisystem process. There are multiple changes in terms of etiology, development of the process and the complications in adults and children.The current review discusses the new aspects in the literature in regard to CKD, focusing mainly on the bone changes and physical activity in patients in pediatric population. Renal osteodystrophy is linked not only to decreased bone density, due to decreased production of vitamin D, but also to rickets changes. So far there is no data in the literature for physiotherapy treatment, currently practiced with children with CKD. Studies in recent years pay attention to physical activity in the pediatric population

The use of 3D printing in manufacturing anthropomorphic phantoms for biomedical applications

Emerging imaging modalities require urgently the use of physical anthropomorphic phantoms. They are used to design, test and evaluate the performance of the new forthcoming imaging systems, prior to their introduction into clinical practice. However, until recently, manufacturing of such phantoms was challenging due to limitations in the current technology, suitable materials, manufacturing precision, and size of digitalmodels. This paper presents the application of three-dimensional (3D) printing in the field of biomedical engineering. Specifically, the focus is on the development of anthropomorphic physical phantoms with characteristics suitable for use in x-ray imaging. The use of 3D printing in the educational process of engineers, doctors and physicists is also demonstrated

Renal agenesis - past and future

Congenital urinary tract anomalies (CUTAs) are common among children and represent approximately 30% of all the prenatally diagnosed malformations. They are the primary reason for a chronic renal failure. Most anomalies are manifested by urinary tract infections, changes of urine colour, abdominal pain while some malformations are asymptomatic. A particular anomaly such as renal agenesis is of interest for pediatric nephrologists. In the past, it has not troubled the patients. Nowadays it is accepted that this anomaly relates with a hidden risk for the development of kidney failure and thus requires a special attention. In the present survey, some issues of the epidemiology, diagnosis and treatment of CUTA are considered.Scripta Scientifica Medica 2013; 45(4): 17-19

Clinical presentation of congenital urinary tract anomalies in childhood

Congenital urinary tract anomalies (CUTAs) are common pathology of the urinary tract in childhood. They present with a variety of symptoms in most patients. Some CUTAs can be diagnosed as an accidental finding during the ultrasound examination on another occasion. CUTAs can accompany other genetic syndromes in children, too. The significance of CUTAs is determined by the complications caused by them. They underlie the urinary tract infections and nephrolithiasis. CUTAs can lead to a chronic renal disease in a significant percentage of cases. Therefore, they require a sufficient physician's knowledge about their clinical presentation, appropriate diagnostic approach and timely prevention of complications. In the present brief survey, some features of the most common CUTAs in children are presented.Scripta Scientifica Medica 2013; 45(4): 13-16

The challenge - pediatric pulmonology emergencies

Заболяванията на дихателната система в детска възраст се нареждат на първо място по честота в детската патология. Коректно снетата анамнеза, познаването на симптомите, адекватната и бърза реакция от страна на специалистите определя изхода на заболяването и неговите усложнения. Спешните състояния в детската пулмология са чести и представляват сериозно предизвикателство за общопрактикуващи лекари, педиатри, пулмолози, специалисти по здравни грижи. Познаването на причините за дихателна недостатъчност в детска възраст дава възможност за насоченото им търсене и своевременна бърза преценка и подход. Като най-чести спешни състояния на дихателната система, свързани с проявите на дихателна недостатъчност в детска възраст, са: аспирация, чуждо тяло, епиглотит, ларингит, пневмония, бронхиална астма. Преценката, бързината в амбулаторни и болнични условия при дете със спешно състояние на дихателната система е изключително важен момент, определящ изхода на заболяването.Respiratory diseases in children are the leader in frequency in pediatric pathology. A properly examined medical history, knowledge of the symptoms, an adequate and prompt reaction by the specialists determine the outcome of the disease and any following complications. Emergency conditions in pediatric pulmonology are frequent and they present a serious challenge for general practitioners, pediatricians, pulmonologists, healthcare professionals. Knowing the causes for respiratory insufficiency in children allows for their accurate identification and a rapid evaluation and adequate approach. The most frequent emergency conditions, associated with the occurrence of respiratory insufficiency in children are: aspiration, foreign body, epiglottitis, laryngitis, pneumonia, bronchial asthma. The judgment, the swiftness in ambulatory and hospital conditions in regards to a child with an emergency condition of the respiratory system are of utmost importance, determining the outcome of the disease

DIAGNOSTIC ALGORITHM IN CHILDREN WITH ENURESIS NOCTURNA

Enuresis nocturna is a common disorder in childhood representing a serious medico-social problem. A series of organic, functional, familial, life-style, and psycho-social reasons are involved in wetting one's bed in children. The diagnostic algorithm in children with enuresis nocturna includes a detailed anamnesis and clinical examination, laboratory tests of urine, urea, creatinine, uric acid, ionogram, and echography of the urinary tract. The exclusion of an organic etiology requires purposeful search for psycho-social, familial, and life-style factors as well as consult examination by a psychiatrist or neurologist

Network-Constrained Regularization in Computational Biology and Medicine

Introduction: Computational biology, diagnostic modalities, clinical patient results often involve working with high-dimensional data (p >> n). Penalized regression methods are often used on such data, as they can perform feature selection effectively. In particular, network penalized approaches also allow to model relationships between predictors, as often occurs when analyzing omics data. Unfortunately, the wide variety of such methods in literature leads to difficulty in choosing the most suitable one for a given dataset.Aim: This paper focuses on a variety of regression methods and potential applications in computational biology and medical research.Materials and Methods: The following basic regression methods are briefly discussed: Ridge, Lasso, Elastic Net, and Grace. Their application in solving problems in medical research as well as in everyday practice of the Modelling and Simulation research group at Medical University of Varna is demonstrated.Results and Conclusion: Regression methods were successfully used to define the characteristics of the available materials with 3D printing technologies. Based on these, novel physical models were manufactured and for x-ray imaging research use. Application of network-based regularization method was reviewed to be suitable for defining the relation between patient’s genotype and drug response

DIAGNOSTIC AND THERAPEUTIC PROBLEMS OF ACUTE RENAL FAILURE IN CHILDHOOD

Acute renal failure (ACR) is a clinical-biological syndrome of sudden rapidly advancing, commonly reversible damage of renal function when a normal body homeostasis cannot be maintained. In the Department of Paediatrics, Medical University of Varna, 18 children with ACR were treated. The most common reasons for the ACR were the following: acute glomerulonephritis, haemolytic-uraemic syndrome, and severe malformations of the urinary tract. Blood urea, creatinine, ionogram,acid-base balance, and diuresis were dynamically monitored in all the children. Therapeutic behaviour was directed towards the correction of the dyselectrolytaemia and acid-alkaline profile. The elevated lethality rate still persisted. Three patients deceased

Renal colic - one of the urgent conditions in pediatrics

Бъбречната колика е остро състояние, причинено от конкремент в уретера, предизвикващ нарушение в уринния оток с последващо повишено налягане в кухинната система на бъбрек. Клиничната картина при деца се отличава от тази при възрастни. Водещ симптом е коремната болка, съчетана с хематурия. Диагнозата е комплекс от анамнестични данни, клинични, лабораторни и образни изследвания. Важно е изключването на „остър хирургичен корем”. Лечението изисква адекватна хидратация, нестероидни противовъзпалителни средства, спазмолитици, антиеметици, при необходимост – антибактериални средства. Целта е овладяване на болковия синдром, предпазване от усложнения и профилактика на рецидивите.Renal colic is an acute condition, caused by a ureteral stone that disturbs urine flow and increases the pressure in the kidneys. Clinical symptoms in children are much different from adults. The main complaint is an abdominal pain, combined with haematuria. The diagnosis is a complex of patient‘s medical history, clinical, laboratory and imaging tests. The most important issue is to exclude an acute surgical disease that needs an urgent operation. Medical treatment requires adequate hydration, nonsteroid anti-inflammatory drugs, spasmolytics, and if necessary – antibi-otics. The most important aim is to overcome the pain, to prevent complications and relapses of kidney stone disease