A clinical case of late diagnosis of a chronic type I tyrosinemia

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Abstract

Tyrosinemia type 1 is a genetic disease mainly of the first months and years of life caused by a violation of normal tyrosine catabolism with the formation of final toxic metabolites that have a direct damaging effect on the liver and kidneys with the development of a characteristic clinical picture, represented mainly by functional and morphological disorders on a part of the liver that forms a cirrhosis clinic with a high probability of the latter's degeneration into hepatocellular carcinoma. In the article below, we present a clinical case of the first described late onset of a chronic variant of tyrosinemia type 1 with leading manifestations by type of renal dysfunction with the development of de Toni–Debre–Fanconi syndrome, followed by the formation of phosphopenic osteomalacia and the late appearance of diagnostic criteria corresponding to the initial stage of cirrhosis of the liver.

About the authors

Natalia V. Chebotareva

Sechenov First Moscow State Medical University

Author for correspondence.
Email: natasha_tcheb@mail.ru
ORCID iD: 0000-0003-2128-8560

D. Sci. (Med.), Prof.

Russian Federation, Moscow

Elvira D. Stafeeva

Sechenov First Moscow State Medical University

Email: natasha_tcheb@mail.ru
ORCID iD: 0009-0004-0431-1890

Student

Russian Federation, Moscow

Olga А. Li

Sechenov First Moscow State Medical University

Email: natasha_tcheb@mail.ru
ORCID iD: 0000-0003-1739-677X

Cand. Sci. (Med.), Nephrologist

Russian Federation, Moscow

Agunda M. Kuchieva

Sechenov First Moscow State Medical University

Email: natasha_tcheb@mail.ru
ORCID iD: 0000-0002-8360-7734

Head of Department

Russian Federation, Moscow

Svetlana I. Polyakova

Pirogov Russian National Research Medical University

Email: natasha_tcheb@mail.ru
ORCID iD: 0000-0002-6528-1873

D. Sci. (Med.), Prof.

Russian Federation, Moscow

Jamal T. Abdurakhmanov

Sechenov First Moscow State Medical University

Email: natasha_tcheb@mail.ru
ORCID iD: 0000-0002-3160-2771

D. Sci. (Med.), Prof.

Russian Federation, Moscow

Sergey V. Moiseev

Sechenov First Moscow State Medical University

Email: natasha_tcheb@mail.ru
ORCID iD: 0000-0002-7232-4640

Corr. Memb. of the RAS, D. Sci. (Med.), Prof.

Russian Federation, Moscow

References

  1. Боярская Л.Н., Дмитрякова Г.Н., Денисенко И.Г. Орфанные болезни: семейный случай тирозинемии 1-го типа. Перинатология и педиатрия. 2014;60(4):77 [Boyarskaya LN, Dmytryakova GN, Denisenko IG. Orphan diseases: a family case of tyrosinaemia type 1. Perinatologiia i pediatriia. 2014;60(4):77 (in Russian)]. EDN:TTKNCL
  2. Иванова О.Н. Наследственная тирозинемия I типа. Medicus. 2016;10(4):44-5 [Ivanova ON. Hereditary tyrosinemia type I. Medicus. 2016;10(4):44-5 (in Russian)]. EDN:WDHDBD
  3. Mitchell G, Grompe M, Lambert M, Тanguay M. Hypertyrosinemia. In: The metabolic and molecular bases of inherited disease. New-York: McGraw-Hill, 2001; p. 1777-805.
  4. Кузнецова М.А., Зрячкин Н.И., Царева Ю.А., Зуева Е.И. Тирозинемия 1 типа. Обзор литературы с описанием клинического случая. Российский педиатрический журнал. 2019;22(1):57-64 [Kuznetsova MA, Zryachkin NI, Tsareva YA, Zueva EI. Tyrosinemia I type (literature review) with a description of the clinical case. Rossiiskii pediatricheskii zhurnal. 2019;22(1):57-64 (in Russian)]. doi: 10.18821/1560-9561-2019-22-1-57-64
  5. Полякова С.И. Эффективность терапии нитизиноном наследственной тирозинемии I типа. Российский педиатрический журнал. 2012;6:59-65 [Poliakova SI. The effectiveness of orfadin (nitisinone) therapy in the treatment of hereditary tyrosinemia type 1. Rossiiskii pediatricheskii zhurnal. 2012;6:59-65 (in Russian)]. DOI:616.153.587.42-055.5/.7-085
  6. Шакирова А.Р., Камалова А.А., Калиничева А.Е. Клинический случай тирозинемии 1 типа у ребенка первого года жизни. Вопросы детской диетологии. 2013;11(2):75-8 [Shakirova AR, Kamalova AA, Kalinicheva AE. A clinical case of tyrosinemia type 1 in an infant of the first year of life. Voprosy detskoi dietologii. 2013;11(2):75-8 (in Russian)]. EDN:PYWKSF
  7. Климов Л.Я., Вдовина Т.М., Курьянинова В.А., и др. Тирозинемия 1-го типа: обзор литературы и описание клинического случая. West Kazakhstan Medical Journal. 2022;64(2): 63-72 [Klimov LIa, Vdovina TM, Kuryaninova, et al. Tyrosinemia type 1: literature review and clinical case description. West Kazakhstan Medical Journal. 2022;64(2):63-72 (in Russian)]. doi: 10.24412/2707-6180-2022-64-63-72
  8. Клинические рекомендации. Наследственная тирозинемия I типа у детей. МКБ 10: E70.2. 2016. Режим доступа: https://www.pediatr-russia.ru/information/klin-rek/deystvuyushchie-klinicheskie-rekomendatsii/%D0%A2%D0%B8%D1%80%D0%BE%D0%B7%D0%B8%D0%BD%D0%B5%D0%BC%D0%B8%D1%8F%20%D0%B4%D0%B5%D1%82%D0%B8%20%D0%A1%D0%9F%D0%A0.v2.pdf. Ссылка активна на 24.11.2024 [Klinicheskie rekomendatsii. Nasledstvennaia tirozinemiia I tipa u detei. MKB 10: E70.2 2016 Available at: https://www.pediatr-russia.ru/information/klin-rek/deystvuyushchie-klinicheskie-rekomendatsii/%D0%A2%D0%B8%D1%80%D0%BE%D0%B7%D0%B8%D0%BD%D0%B5%D0%BC%D0% B8%D1%8F%20%D0%B4%D0%B5%D1%82%D0%B8%20%D0%A1%D0%9F%D0%A0.v2.pdf. Accessed: 24.11.2024 (in Russian)].
  9. Couce ML, Sánchez-Pintos P, Aldámiz-Echevarría L, et al. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain. Medicine (Baltimore). 2019;98(39):e17303. doi: 10.1097/MD.0000000000017303
  10. Äärelä Л, Pauliina H, Tea S. Type 1 tyrosinemia in Finland: a nationwide study. Orphanet J Rare Dis. 2020;15:1-11. doi: 10.1186/s13023-020-01547-w

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