Relevance. Tubulopathies are tubular kidney diseases characterized by various disorders of the tubular transport of electrolytes, minerals, water and organic substances, hereditary (primary tubulopathies) or acquired (secondary tubulopathies). The study of such diseases is associated with many unresolved issues among patients suffering from this pathology. Challenges remain in timely diagnosis, pharmacological treatment, dispensary observation, and patient rehabilitation. The purpose of the study is to describe a clinical case of a patient with tubulopathy with skeletal deformation and polyuria. Material and research methods. In this article, we wanted to share our own clinical observations of a patient with hereditary tubulopathy with polyuria and manifestations of hypophosphatemic rickets, identified among children in the Fergana Valley of the Republic of Uzbekistan. Results of the study. The clinical case of patient S. showed that due to late diagnosis and late initiation of treatment, the patient developed growth retardation, skeletal deformities, as well as dehydration and acidosis. Conclusion. Early detection and genetic counseling are critical in the treatment of tubulopathies in children, especially in families with a history of chronic kidney disease. Further research is needed to explore the genetic and environmental and social factors (consanguineous marriages) that contribute to the development of these diseases in the region. Conducting a molecular genetic study will make it possible to plan tactical steps for treating the patient and subsequently carry out the prevention of the birth of children with tubulopathy in a particular family.
| Mualliflar | Madzhidova, Nilufar, Ganieva, Marifat, Rakhmanova, Lola, Маджидова, Нилуфар, Ганиева, Марифат, Рахманова, Лола, Madzhidova, Nilufar, Ganieva, Marifat, Rakhmanova, Lola |
|---|---|
| Jurnal | Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi |
| Nashr sanasi | 2025-04-30 |
| Jild | 4 |
| Son | 2 |
| Betlar | 40-43 |
| Til | Rus |
| DOI | 10.56121/2181-3612-2025-2-40-43 |
DOI: 10.56121/2181-3612-2025-2-40-43 · Maqolaning asl sahifasi
tubulopathies, polyuria, skeletal deformities, hypophosphatemic rickets, тубулопатии, полиурия, деформация скелета, гипофосфатемический рахит, tubulopatiya, poliuriya, skelet deformatsiyasi, gipofosfatemik raxit
Relevance. Community-acquired pneumonia (CAP) with complications is typical for respiratory diseases and occurs in up to 20% of children. In addition to respiratory failure, children with CAP often experience…
Research Objective: To determine the role of pro-inflammatory cytokines in the early diagnosis of juvenile idiopathic arthritis (JIA) and kidney involvement. Materials and Methods: The study included data on patients…
Relevance. Respiratory syncytial infection is the most common cause of lower respiratory tract damage in children under 5 years of age. Respiratory syncytial virus infection is the most common cause of severe lower…
Relevance. Systemic lupus erythematosus is a common disease among rheumatic diseases of childhood. The frequency of the disease has a steady upward trend due to changes in the environment and eating disorders. The…
Relevance. Galactosemia is a rare inherited disease that occurs as a result of a genetic mutation blocking the enzymes involved in galactose metabolism. Clinical manifestations are directly related to the accumulation…
This article examines the main diseases of the digestive system that cause IDA. Purpose of the study. To determine the relationship between the occurrence of IDA in children and gastrointestinal diseases. To identify…
The aim of the study was to evaluate the clinical significance of zinc deficiency in children with atopic dermatitis and its correction. Materials and Methods: The study was conducted at the multidisciplinary clinic of…
Relevance. Viral hepatitis C remains one of the most common liver diseases that requires complex treatment. Due to the limited capabilities of modern medicine in the fight against this disease, the search for additional…
Atopic dermatitis is a multifactorial disease caused by the combined effects of genetic changes and trigger mechanisms in the body. It is known that the etiopathogenetic "basis" of multifactorial diseases is the…
Objective: The aim of the study was to assess the frequency of risk factors for prediabetes and diabetes mellitus among the rural population of Andijan region. Materials and Methods: The study involved 1,800…
Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi — barcha maqolalar