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A Rare Case of Congenital Nephrogenic Diabetes Insipidus Associated with Aquaporin 2 Gene Mutation and Subsequent Acute Lymphoblastic Leukemia: Impact of Steroids on Kidney Function.
Al-Thiabat, Hanan; Abu-Aqoulah, Abdullah; Kanaan, Dana; Matalka, Mohammad Ismail; Al-Sweedan, Suleimman.
Afiliación
  • Al-Thiabat H; Department of Pediatrics and Neonatology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.
  • Abu-Aqoulah A; Department of Pediatrics and Neonatology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.
  • Kanaan D; Department of Pediatrics and Neonatology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.
  • Matalka MI; Department of Pathology and Microbiology, Jordan University of Science and Technology, Ramtha, Irbid, Jordan.
  • Al-Sweedan S; Department of Pediatrics and Neonatology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.
Am J Case Rep ; 25: e943597, 2024 May 21.
Article en En | MEDLINE | ID: mdl-38769718
ABSTRACT
BACKGROUND Nephrogenic diabetes insipidus (NDI) is a rare renal disorder that can be congenital, and is caused by mutations in either aquaporin 2 or arginine vasopressin receptor 2, or it can be secondary to kidney disease or electrolyte imbalance. The clinical signs of NDI include polyuria, compensatory polydipsia, hypernatremic dehydration, and growth retardation without prompt treatment. In this report, we present the case of a patient with congenital NDI who was later diagnosed with acute lymphoblastic leukemia (ALL). With dexamethasone treatment, he had uncontrolled polyuria and polydipsia. Our aim was to concentrate on the impact of steroids on the kidneys. CASE REPORT Our patient presented at the age of 9 months with signs of severe dehydration that were associated with polyuria. His laboratory examinations revealed hypernatremia and decreased urine osmolality. He was diagnosed with NDI and his exome sequence revealed a homozygous mutation at the nucleotide position AQP2 NM_000486.6 c.374C>T (p.Thr125Met). He was treated with hydrochlorothiazide and amiloride. Then, at age 19 months, he presented with gastroenteritis and a complete blood count (CBC) showed high white blood cell count and blast cells. He was diagnosed with (ALL) and began receiving chemotherapy, during which again developed polydipsia and polyuria, which could not be controlled with an increased dosage of hydrochlorothiazide. CONCLUSIONS We report a rare case of NDI caused by a missense mutation in the aquaporin 2 gene. One year later, the child developed ALL, and treatment with dexamethasone led to an uncompensated state of polydipsia and polyuria.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diabetes Insípida Nefrogénica / Acuaporina 2 / Leucemia-Linfoma Linfoblástico de Células Precursoras Límite: Humans / Infant / Male Idioma: En Revista: Am J Case Rep Año: 2024 Tipo del documento: Article País de afiliación: Jordania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diabetes Insípida Nefrogénica / Acuaporina 2 / Leucemia-Linfoma Linfoblástico de Células Precursoras Límite: Humans / Infant / Male Idioma: En Revista: Am J Case Rep Año: 2024 Tipo del documento: Article País de afiliación: Jordania Pais de publicación: Estados Unidos