Nefronoftizisul juvenil la copil (caz clinic).

Ciuntu Angela; Beniş Svetlana; Gavriluţa Valerii; Tcaci Natalia

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2024-04-10 11:57

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616.61-002.191-053.2-071 (1)

Pathology of the urogenital system. Urinary and sexual (genital) complaints. Urology (392)

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CIUNTU, Angela, BENIŞ, Svetlana, GAVRILUŢA, Valerii, TCACI, Natalia. Nefronoftizisul juvenil la copil (caz clinic).. In: Buletinul Academiei de Ştiinţe a Moldovei. Ştiinţe Medicale, 2018, nr. 1(58), pp. 136-137. ISSN 1857-0011.

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Buletinul Academiei de Ştiinţe a Moldovei. Ştiinţe Medicale

Numărul 1(58) / 2018 / ISSN 1857-0011

Nefronoftizisul juvenil la copil (caz clinic).

Nephronophthisis juvenile in child (clinical case)

Ювенильный нефронофтиз у детей (клинический случай)

CZU: 616.61-002.191-053.2-071

Pag. 136-137

Ciuntu Angela¹², Beniş Svetlana²¹, Gavriluţa Valerii¹², Tcaci Natalia²¹

¹ IMSP Institutul Mamei şi Copiluluii,
² Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“

Disponibil în IBN: 27 iunie 2018

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Nefronoftizisul (NPH) reprezintă o maladie genetică autozomal-recesivă caracterizată printr-o nefrită tubulo-interstițială cronică care progresează până la stadiul final al bolii cronice renale (BCR). Se prezintă un caz clinic cu debut la vârsta de 6 ani cu poliurie, polidipsie, enuresis și evoluție spre BCR la vârsta de 14 ani.

Nephronophthisis is a autosomal-recessive disease characterized by chronic tubule-interstitial nefritis with progress to the final stage of chronic kidney disease (CKD). We present the case of a boy with polyuria, polydipsia and enuresis onset at the age of 6 years with CKD developing at the age of 14.

Нефронофтиз - это аутосомно-рецессивная генетическая болезнь, характеризующаяся хроническим тубуло-интерстициальным нефритом, прогрессирующая в хроническую почечную недостаточность (ХПН). В этой работе автор представляет клинический случай у ребёнка с дебютом в 6 лет, протекающее с полиурией, полидипсией и энурезом и прогрессированием к ХПН в возрасте 14 лет.

Cuvinte-cheie
nefronoftizis, maladie genetică,

copil.

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