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 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

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

Algorithm of behavior in children with acute kidney failure

Острата бъбречна недостатъчност (остра бъбречна увреда - ОБУ) е клинико-лабораторен синдром, настъпващ с остро отпадане на основните бъбречни функции: хомеостазна, екскреторна, регулаторна. Честотата на ОБУ в детска възраст варира от 20 случая на година на 100 000 популация при новородени до 2 случая на година на 100 000 при юноши и е едно от най-драматичните състояния в детската нефрология. ОБУ протича с олигурия, хиперкалиемия,отоци, тахикардия, високи стойности на артериално налягане. Различава се преренална, ренална и постренална ОБУ, в зависимост от причините, които я предизвикват. Алгоритъмът на поведение включва: анамнестични данни за гадене, повръщане, диариен и болков синдром, оперативна интервенция, екзогенни въздействия, вродени аномалии, рецидивиращи инфекции на пикочните пътища, нефролитиаза, общо състояние (степен на дехидратация, бледост на кожа и видими лигавици), лабораторна оценка (CRP, урея, креатинин, пикочна киселина, общ белтък, йонограма, коагулационен статус, уринен анализ) и лечение в интензивно отделение. Здравните грижи включват: следене на температура, диуреза (постоянен катетър). Основните жизнени показатели - дишане, сърдечна дейност, се мониторират. Изработването на добра терапевтична стратегия е част от мениджмънта на това сериозно бъбречно състояние.Acute kidney failure (AKF, also called acute kidney injury - AKI) is a clinical laboratory syndrome occurring with acute failure of basic kidney functions: homeostasis, excretion, regulation. The frequency of AKF in childhood ranges from 20 cases per year per 100,000 population in neonates to 2 cases per year per 100 000 in adolescents. AKF is one of the most dramatic conditions in pediatric nephrology. AKF proceeds with oliguria, hyperkalemia, oedema, tachycardia, arterial hypertension. The causes of AKF are commonly categorized into prerenal, intrinsic, and postrenal.The algorithm of behavior includes: a history of nausea, vomiting, diarrhea and pain syndrome, surgery, exogenous effects, congenital disorders, recurrent urinary tract infections, nephrolithiasis, status (degree of dehydration, pallor of the skin and visible mucous membranes), laboratory evaluation (CRP, urea, creatinine, uric acid, total protein, detailed ionogram, coagulation status, urine analysis) and intensive care treatment. Healthcare includes: monitoring of temperature, diuresis (indwelling catheter). Basic vital signs - body temperature, blood pressure, heart rate and respiratory rate also must be monitored.Development of good therapeutic strategy is part of the management of this serious kidney condition

Secretory IgA and other indicators for tooth decay among children with diagnosed pyelonephritis and nephrotic syndrome

Проучвания показват, че секреторният IgA е с протективна роля срещу зъбния кариес. Лицата с кариес-резистентно съзъбие са със значително по-високи нива на слюнчения sIg A в сравнение с кариес-активните лица. Естествено секретираните слюнчени Ig A антитела могат да играят съществена роля в имунологичния контрол на зъбния кариес. Слюнченият sIg A, в качеството си на първа линия на защита на оралната мукоза, съдейства за инхибиране колонизацията на Streptococcus Mutans върху гладките зъбни повърхности, както и за неутрализиране действието на продукти на метаболитната му активност - ензими и токсини. При концентрации, нетоксични за човешкия организъм, нитритите в значителна степен възпрепятстват киселинната продукция - резултат от метаболизма не само на Str. mutans, но и на други ацидогенни представители на оралната микрофлора - A. naeslundii и L. casei. Целта на настоящото изследване е да се установят корелационни зависимости между брой кариозни лезии, брой кари озни петна и нивото на sIg A, PLI, GI, pH и нитрити в проби от нестимулирана смесена слюнка при деца, страдащи от пиелонефрит и нефротичен синдром, както и сред контролна група здрави участници. Приложен е корелационен анализ с отчитане коефициента на Пирсън. Установена е слаба отрицателна корелация между sIg A и брой кариозни лезии при пациентите с пиелонефрит и здравите деца. Детерминирана е умерена отрицателна корелация между sIg A и PLI, както и между sIg A и GI сред пациентите с нефротичен синдром. При тези пациенти е налице голяма отрицателна корелация между sIg A и брой кариозни петна. Интерпретацията на кариеса като инфекциозно заболяване асоциира значителната редукция на sIg A в слюнката с инициацията на нови и прогресия на вече налични кариозни лезии и кариозни петна. Заниженото равнище на sIg A благоприятства отключването и авансирането на инфламаторни реакции на гингивалната тъкан.Investigations ascertain that secretory IgA is characterized with a protective role against tooth decay. People with caries-resistant dentition are with significantly higher levels of salivary IgA compared with caries-active people. Normally secreted salivary IgA antibodies influence the immunological control of tooth decay. Secretory IgA in saliva, acting as the first line of protection of oral mucosa, contributes to inhibition of the colonization of Streptococcus Mutans upon smooth teeth surfaces, as well as to neutralization of microorganisms` metabolic products - enzymes and toxins. In concentrations non-toxic for the human body, nitrites have a considerable effect on the inhibition of acids` production performed not only by S. mutans, but also by other acids-producing representatives of oral microbiota - A. naeslundii and L. casei. The purpose of this study is to establish correlations between the number of carious lesions, the number of areas of de-mineralization and the level of sIgA, PLI, GI, pH and nitrites in samples of non-stimulated saliva in children suffering from pyelonephritis and nephrotic syndrome, parallel to a group of healthy controls. A correlation analysis with registration of the coefficient by Pearson has been applied. Slight negative correlation was calculated between sIgA and number of carious lesions in patients with pyelonephritis and healthy children. Moderate negative correlation was determined between indicators sIgA and PLI, and between indices of sIg A and GI among patients with nephrotic syndrome. These are characterized with significant negative correlation between sIgA and number of areas of de-mineralization. The interpretation of tooth decay as an infectious disease associates the considerable reduction of salivary sIgA with initiation of new and progression of already existing carious lesions and spots of de-mineralization. The decreased level of sIgA maintains favorable conditions for inflammatory reactions of gingival tissue

Kinesitherapy for Patients on Hemodialysis

Introduction: Chronic kidney disease (CKD) is a huge challenge for GPs and nephrologists. Physiotherapists are increasingly included in the multidisciplinary teams dealing with CKD around the world to improve the quality of life and prevent a number of complications of patients undergoing the most common treatment for CKD, namely hemodialysis.Aim: The aim of this article is to present the possibilities for optimizing and supporting the motor activity of hemodialysis patients.Materials and Methods: Review of medical literature from the last 10 years, published in the scientific databases: Pubmed, Google Scholar, PubMed Central, and ScienceDirect, has been conducted.Results: Numerous independent studies have shown that kinesitherapy is a reliable aid in the prevention of cardiovascular diseases and in improving the overall condition of patients with CKD on hemodialysis. The implementation of specialized devices for kinesitherapy during hemodialysis and the selection of appropriate exercises to practice at home also show a significant improvement in mental health (motivation for a better and more active life) of hemodialysis patients.Conclusion: The inclusion of kinesitherapy during hemodialysis and acquainting chronically ill patients with the opportunities for improving their physical activities would lead to improved health status and quality of life of these patients

Preauricular sinus: Incidence and inheritance

Introduction: The preauricular sinus (PAuS) is a malformation of the auricula pinna. The structure may present isolated or as a component of a number of oto-renal syndromes.Aim:  The aim of this study was to establish the incidence of PAuS in a Bulgarian cohort and propose a model for its inheritance, based on the transgenerational mechanisms derived from the genealogic trees of interviewed individuals.Materials and Methods: A total of 100 healthy individuals were prospectively evaluated for the presence of a PAuS on a random cohort sampling principle. A descriptive statistical approach was used when categorizing the individual features. Individuals were also assessed in terms of their genealogies and presence of renal symptoms.Results: Of all assessed individuals, 3% (n=3) had a structure complying with the criteria for a PAuS. No one having the structure reported renal symptoms. The genealogical trees were characteristic of a dominant trait with incomplete penetrance.Conclusion: The incidence of PAuS in our study cohort is similar to that of other Caucasian cohorts and gives a rare modern glimpse into the transgenerational inheritance of the PAuS, together with data on the oto-nephrological syndromes

Incidence And Characteristics Of Urinary Tract Infections Among Febrile Children In Early Childhood

Introduction: Fever is the most common cause for concern for parents and a reason to seek help from a GP or emergency centers. The high temperature in children in most cases is short-lived and is a protective reaction that stops or slows down the development of many microorganisms, stimulates the immune response, and provides rest to the sick child. Negative effects are dehydration, hypovolemia, hyperthermic seizures in childhood, hypotension to collapse. Urinary tract infections (UTIs) can occur only with fever or with fever and non-specific symptoms such as malaise, vomiting, abdominal pain, and jaundice. Antibiotic treatment for fever without a proven cause may mask an existing urinary tract infection.Aim: The aim of this article is to review the scientific literature for a period of 40 years on the incidence of UTIs in infancy and early childhood in children with fever.Methods: Analysis of Bulgarian and foreign literature sources according to the PubMed and Google Scholar databases for a period of 40 years has been conducted.Results: The analysis of the data from the scientific literature showed that the frequency of UTI varies depending on gender and age. In most studies, the incidence of UTI in febrile children under 24 months of age, both sexes, with or without additional symptoms of UTI, was between 5% and 15%. In boys, the prevalence is highest in the first 3 months of life and then shows a declining trend, while in girls the prevalence is highest in the first 12 months of life. There is evidence in the literature that fever (rectal temperature ≥ 39°C) and uncircumcised status are more likely to be linked to UTI in boys. E. coli is the most common bacterial infection in early childhood and is the leading cause of UTI in this age group.Conclusion: The GP needs to make efforts to educate parents on the diagnosis, consequences and appropriate treatment of obscure febrile conditions, and UTI should be excluded. It is necessary to pay attention to the method of measuring the temperature, the differences in the values in the different measuring points. In this aspect, the GP should perform an in-depth analysis for early diagnosis of UTI in all boys under 12 months of age and girls under 24 months of age with unexplained fever, temperature above ≥ 38°C measured rectally for 3 minutes

Impact of aquatic sports on the evolution of obstructive sleep apnea and snoring and other breathing disorders

Obstructive sleep apnea (OSA) is a clinical syndrome characterized by periodic reduction (hypopnea) or cessation (apnea) of airflow through the nose/mouth during sleep due to collapse of the upper respiratory tract lasting 10 seconds or more. Severe snoring, hypoxemia and micro-awakenings occur, leading to sleep fragmentation, daytime fatigue and drowsiness. One of the key factors for the development of OSA is obesity. Excessive alcohol consumption, smoking, and presence of relatives with sleep apnea are risk-increasing factors. The gold standard in diagnosis is polysomnographic examination.Various values and indices are monitored, the most important of which is the apnea/hypopnea index. Treatment includes control of risk factors and removal of breathing obstacles. In patients with more severe obstructive sleep apnea syndrome, the gold standard of treatment remains constant positive pressure ventilation during sleep.   Water sports have been part of programs for prevention of breathing disorders during sleep for many years.       Our goal is to confirm whether after active sea treatment, water sports and weight loss of patients symptoms of obstructive sleep apnea and snoring would be favorably affected, as well as to actively promote and educate our patients about a more active sports (and aquatic) life.      Results from our studies on patients with problems with the upper respiratory tract and OSA show that more than half did not practice sport. Some have common diseases, incl. allergic conditions. The influence of bad habits and the hereditary factor were confirmed as well.     Obstructive sleep apnea and snoring syndrome is a serious disease with consequences for patients and other people. Screening of at-risk patients should be continued and studies should be conducted on the effectiveness of current and new methods for diagnosing and treating the syndrome