CLINICAL CASE OF TUBULOPATHY WITH POLYURIA AND RICKETS SYNDROME (hypophosphatemic rickets?)

Madzhidova, Nilufar, Ganieva, Marifat, Rakhmanova, Lola, Маджидова, Нилуфар, Ганиева, Марифат, Рахманова, Лола, Madzhidova, Nilufar, Ganieva, Marifat, Rakhmanova, Lola

Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi · 2025-yil

Annotatsiya

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.

Maqola ma’lumotlari
MualliflarMadzhidova, Nilufar, Ganieva, Marifat, Rakhmanova, Lola, Маджидова, Нилуфар, Ганиева, Марифат, Рахманова, Лола, Madzhidova, Nilufar, Ganieva, Marifat, Rakhmanova, Lola
JurnalMedical science of Uzbekistan / O'zbekiston tibbiyot ilmi
NashriyotАндижон давлат тиббиёт институти
ISSN2181-3612
Nashr sanasi2025-04-30
Jild4
Son2
Betlar40-43
TilIngliz
Ilmiy sohaTibbiyot
DOI10.56121/2181-3612-2025-2-40-43
Indeksga qo‘shilgan2026-08-26

DOI: 10.56121/2181-3612-2025-2-40-43 · Maqolaning asl sahifasi

Kalit so‘zlar

tubulopathies, polyuria, skeletal deformities, hypophosphatemic rickets, тубулопатии, полиурия, деформация скелета, гипофосфатемический рахит, tubulopatiya, poliuriya, skelet deformatsiyasi, gipofosfatemik raxit

Ilmiy soha

Tibbiyot

Iqtibos keltirish

APAMadzhidova, Nilufar, Ganieva, Marifat, Rakhmanova, Lola, Маджидова, Нилуфар, Ганиева, Марифат, Рахманова, Лола, Madzhidova, Nilufar, Ganieva, Marifat, & Rakhmanova, Lola (2025). CLINICAL CASE OF TUBULOPATHY WITH POLYURIA AND RICKETS SYNDROME (hypophosphatemic rickets?). Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(2), 40-43. https://doi.org/10.56121/2181-3612-2025-2-40-43
GOST (OAK)Madzhidova, Nilufar va b. CLINICAL CASE OF TUBULOPATHY WITH POLYURIA AND RICKETS SYNDROME (hypophosphatemic rickets?) // Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi. – 2025. – T. 4, № 2. – P. 40-43. – DOI: 10.56121/2181-3612-2025-2-40-43.
MLAMadzhidova, Nilufar, Ganieva, Marifat, Rakhmanova, Lola, Маджидова, Нилуфар, Ганиева, Марифат, Рахманова, Лола, Madzhidova, Nilufar, Ganieva, Marifat, and Rakhmanova, Lola. “CLINICAL CASE OF TUBULOPATHY WITH POLYURIA AND RICKETS SYNDROME (hypophosphatemic rickets?).” Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(2), 40-43, 2025. https://doi.org/10.56121/2181-3612-2025-2-40-43
ChicagoMadzhidova, Nilufar, Ganieva, Marifat, Rakhmanova, Lola, Маджидова, Нилуфар, Ганиева, Марифат, Рахманова, Лола, Madzhidova, Nilufar, Ganieva, Marifat, and Rakhmanova, Lola. “CLINICAL CASE OF TUBULOPATHY WITH POLYURIA AND RICKETS SYNDROME (hypophosphatemic rickets?).” Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(2), 40-43 (2025). https://doi.org/10.56121/2181-3612-2025-2-40-43
HarvardMadzhidova, Nilufar, Ganieva, Marifat, Rakhmanova, Lola, Маджидова, Нилуфар, Ганиева, Марифат, Рахманова, Лола, Madzhidova, Nilufar, Ganieva, Marifat, and Rakhmanova, Lola (2025) ‘CLINICAL CASE OF TUBULOPATHY WITH POLYURIA AND RICKETS SYNDROME (hypophosphatemic rickets?)’, Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(2), 40-43. https://doi.org/10.56121/2181-3612-2025-2-40-43
BibTeX
@article{madzhidovanilufar2025,
  title = {CLINICAL CASE OF TUBULOPATHY WITH POLYURIA AND RICKETS SYNDROME (hypophosphatemic rickets?)},
  author = {Madzhidova, Nilufar and Ganieva, Marifat and Rakhmanova, Lola and Маджидова, Нилуфар and Ганиева, Марифат and Рахманова, Лола and Madzhidova, Nilufar and Ganieva, Marifat and Rakhmanova, Lola},
  journal = {Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi},
  year = {2025},
  volume = {4},
  number = {2},
  pages = {40-43},
  doi = {10.56121/2181-3612-2025-2-40-43},
  url = {https://doi.org/10.56121/2181-3612-2025-2-40-43}
}

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