Hypophosphatasia: How to Suspect the Disease in Paediatric Patients? Clinical Observation

Храмова, Е. Б.; Levitina, E. V.; Romanenko, E.S.; Suprunets, S.N.; Gurkina, E.Yu.; Kuchkina, A.Yu.

doi:10.31550/1727-2378-2020-19-3-35-39

Cited by 4 publications

(9 citation statements)

References 5 publications

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“…В русскоязычной литературе мы нашли описание 17 клинических случаев ГФФ: 10 детей с перинатальной и инфантильной формами, 8 из которых получают заместительную терапию [4][5][6][7][8][9][10], а двое умерли до ее назначения [7,11]; 5 пациентов с детской формой, получающие заместительную терапию (2 из них были описаны до лечения и на фоне заместительной терапии) [5,6,9,10,12,13], и двое -со взрослой формой без лечения [14].…”

Section: Discussionunclassified

“…У нашего пациента диагноз был заподозрен на основании клинических проявлений и подтвержден молекулярно-генетически несколько раньше (окончательно установлен в 3 года), чем в опубликованных ранее наблюдениях пациентов с детской формой ГФФ (4, 6, 7, 8 и 17 лет) [5,6,9,10,12,13]. Относительно ранняя постановка диагноза, вероятно, является отражением большей информированности врачей в последние годы о таком орфанном заболевании, как ГФФ.…”

Section: Discussionunclassified

“…Кроме этого, могли обращать на себя внимание снижение мышечного тонуса, задержка моторного развития [5,6,9,13] и дыхательные нарушения [12]. В первые годы жизни также были типичны частые респираторные инфекции и бронхиты [5,6,9,12], а один из пациентов неоднократно перенес двусторонний экссудативный средний отит [10].…”

Section: Discussionunclassified

“…Одной из основных жалоб в первые годы жизни могли быть боли в ногах и быстрая утомляемость [9,10], а после начала самостоятельной ходьбы -неустойчивая походка и частые падения [10]. У одного из больных имели место эпизоды немотивированной рвоты [6].…”

Section: Discussionunclassified

“…На первом году жизни некоторые больные наблюдались по поводу дисплазии тазобедренных суставов [5,6,9,10]. Начиная со второго года жизни выявлялись краниосиностоз, плоско-вальгусная деформация стоп, вальгусная деформация коленных суставов, сколиотическая деформация позвоночника, лордотическая деформация поясничного отдела позвоночника, килевидная деформация грудной клетки, кифоз поясничного отдела позвоночника [5,9,12,13].…”

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Hepatolenticular Degeneration in Children

Reisis¹,

Scientific²,

Moscow³

2020

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Objective: to present the current situation with hepatolenticular degeneration (HLD) in children and to study clinical and laboratory manifestations, prevalence and significance of the disease in children with unexplained hepatitis (UH). Key Points. HLD, genetic copper metabolism imbalance, is a serious condition masked by UH. There is practically no information on prevalence of HLD in children; and diagnostic capabilities are still a matter of arguments. We have reviewed literature sources on HLD in children and examined 103 children aged 3 to 16 years diagnosed with UH (follow-up period of 3 to 7 years). Two cases have been discussed in detail. In addition to routine clinical examinations, we have tested copper metabolism in blood and 24-hour urine specimen. Genetic tests were conducted to find АТР7В mutations (12 to 14 alleles were examined). Conclusion. HLD in children is not an uncommon cause of hepatic involvement; it affects 11–12% children with UH. Diagnostics is challenging and achieved with a number of tests such as measurement of copper levels in 24-hour urine specimen and genetic tests for HLD with exclusion of any other known and common causes of hepatic conditions (viral, nonalcoholic fatty liver disease, autoimmune hepatitis, primary sclerosing cholangitis associated with inflamed intestine, etc.). Key aspects in prevention of severe organ failures and death in children with HLD are high awareness and early disease detection with timely therapy initiation and favourable outcome. Of the utmost importance in life-long therapy is compliance associated with the level of education and attention from family members. Keywords: hepatolenticular degeneration, children, diagnosis, therapy, outcomes.

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Section: Discussionunclassified

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Hepatolenticular Degeneration in Children

Reisis¹,

Scientific²,

Moscow³

2020

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Clinical features and nature of the course of dysfunctional disorders of the biliar tract for children living in environmentally adverse areas of Krasnodar region

Shashel,

Nazaretyan,

Naumenko

et al. 2023

jour

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The article refl ects the results of a study of the infl uence of adverse environmental factors on the formation of pathology of the biliary system in children of the Krasnodar Territory living in ecologically unfavorable territories.The purpose of the work is to study the features of clinical manifestations of diseases of the biliary system in children living in ecologically unfavorable territories of the Krasnodar Territory. 683 children aged 7–17 years were examined on the basis of the DDC DKKB of Krasnodar.In the course of the study, the clinical features of various forms of dysfunctional disorders, prevalence and morbidity in relation to the level of environmental pollution were studied according to the method of V. A. Shashel and co-authors. The regularities of the prevalence of diseases of the digestive tract depending on the level of pollution have been revealed.

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Clinical phenotype, diagnostics, strategy of hypophosphatasia therapy due to <i>ALPL</i> gene mutations in pediatric and adult patients

Левиашвили

Савенкова

2021

Nefrologiâ (St.-Peterbg.)

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Hypophosphatasia (HPP) ORPHA 436 is a rare disease with an autosomal recessive/autosomal dominant mode of inheritance due to mutations in the ALPL gene mapped on chromosome 1p36.12, encoding a nonspecific tissue isoenzyme alkaline phosphate (TNSALP). Currently, there are more than 400 known mutations in the ALPL gene. HPF is characterized by variability of manifestations from a mild course with minor damage to bones and teeth to severe forms with damage to the nervous system, lungs, and kidneys. In different countries, data on the prevalence of HPP differ, the average prevalence of severe forms is ~ 3.3 cases per 1 million newborns. In Europe, the prevalence of severe forms is 1: 300000 and moderately severe 1: 63701. The prevalence of mild HPP is thought to be much higher. The expected prevalence of severe forms in the Russian Federation is 1: 100000. GPP is diagnosed in patients of any age (with manifestation in utero, in childhood, or in adulthood).HPP is an orphan disease, occurring in patients with damage to many organs and systems: bone (osteoporosis, rickets, fractures, growth retardation), lungs (hypoplasia of the lungs, respiratory failure), central nervous system (vitamin B-dependent convulsions), kidney (calciuria, nephrocalcinosis, chronic kidney disease). In the absence of timely enzyme replacement therapy for severe forms of HPP, characterized by a progressive course, the prognosis for life is unfavorable. The only effective treatment for patients is enzyme replacement therapy in combination with symptomatic therapy. The article presents the features of the phenotype and genotype, clinical forms of HPP (perinatal severe, lethal, perinatal benign, infant, pediatric, adult, and odontohypophosphatasia), methods of early diagnosis, the strategy of pathogenetic enzyme replacement therapy of severe and moderate forms in pediatric and adult patients. In the absence of a timely diagnosis, pathogenetic treatment of GFF, there is a high risk of progression with disability and death.

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Hypophosphatasia: How to Suspect the Disease in Paediatric Patients? Clinical Observation

Cited by 4 publications

References 5 publications

Hepatolenticular Degeneration in Children

Hepatolenticular Degeneration in Children

Clinical features and nature of the course of dysfunctional disorders of the biliar tract for children living in environmentally adverse areas of Krasnodar region

Clinical phenotype, diagnostics, strategy of hypophosphatasia therapy due to <i>ALPL</i> gene mutations in pediatric and adult patients

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