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Extreme hypernatremia after a laparoscopic hysterectomy and bilateral salpingo-oophorectomy: a case report and literature review

  • 0Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, China.
Frontiers in Surgery +

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October 30, 2024

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October 30, 2024

View abstract on PubMed

Summary

This summary is machine-generated.

This study reports a rare case of nephrogenic diabetes insipidus (NDI) in an elderly woman due to an AVPR2 gene mutation. Treatment with a low-sodium diet and medications improved her symptoms.

Area Of Science

  • Nephrology
  • Genetics
  • Endocrinology

Background

  • Congenital nephrogenic diabetes insipidus (NDI) is typically X-linked recessive, caused by AVPR2 gene mutations, affecting males predominantly.
  • NDI presents with polyuria, polydipsia, dehydration, and electrolyte imbalances, usually manifesting shortly after birth.
  • Females are rarely affected, and late-onset NDI in older women is exceptionally uncommon.

Purpose Of The Study

  • To present a unique case of NDI diagnosed postoperatively in a 50-year-old Chinese woman.
  • To investigate the genetic basis and clinical presentation of NDI in an atypical patient demographic.
  • To highlight diagnostic approaches and treatment efficacy for late-onset NDI.

Main Methods

  • Clinical case presentation with detailed patient history and physical examination.
  • Laboratory analyses including serum electrolytes, urine osmolality, and specific gravity.
  • Water deprivation test, vasopressin test, and genetic testing for AVPR2 gene mutations.

Main Results

  • The patient presented with polyuria and hypernatremia postoperatively, despite initially normal blood sodium.
  • Water deprivation and vasopressin tests confirmed NDI, with genetic testing revealing a T to A missense mutation in the AVPR2 gene.
  • Treatment with a low-sodium diet, hydrochlorothiazide, and indomethacin led to significant symptom improvement.

Conclusions

  • This is the first reported case of NDI diagnosed postoperatively in an elderly female patient with AVPR2 heterozygosity.
  • The case underscores the possibility of X-linked recessive NDI presenting atypically in older females.
  • Emphasizes the importance of comprehensive diagnostic workup, including water deprivation, vasopressin, and genetic testing, for NDI diagnosis.

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