Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report
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Ji Hong Park
,
Ji Hyun Kim
,
Hee Gyung Kang
Abstract
Objectives: Gordon syndrome (GS), also known as pseudohypoaldosteronism type II, is a rare tubular disease characterized by hypertension, hyperkalemia, and metabolic acidosis. Its causative genes are CUL3, KLHL3, WNK1, and WNK4, and they are associated with varying severity of the disease. Herein, we report the first case of GS caused by a CUL3 mutation in a patient with short stature in Korea.Case presentation: A 7-year-old boy had hypertension, metabolic acidosis, and persistent hyperkalemia, which were initially detected during the evaluation of short stature. He was born small for gestational age at late preterm gestation. Laboratory test findings showed hyperkalemia with low trans-tubular potassium gradient, hyperchloremic metabolic acidosis with a normal anion gap, and low plasma renin levels. Genetic analysis revealed a heterozygous de novo mutation in the CUL3 gene (c.1377+1G > C in intron 9). Thus, a diagnosis of GS was made. The results of the endocrine function test (including growth hormone stimulation tests) were normal. After thiazide treatment, the patient’s electrolyte levels were normalized. However, he presented with persistent hypertension and short stature.Conclusions: GS should be considered in children with short stature, hypertension, and hyperkalemia, and early treatment may reduce complications.
Funding source: National Research Foundation of Korea 10.13039/501100003725
Award Identifier / Grant number: 2020R1A2C1100974
Acknowledgment
All authors thank the patient and parents for their participation in this study.
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Research funding: This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korean government (MSIT) (No. 2020R1A2C1100974).
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Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
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Competing interests: The funding organization played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Informed consent: Informed consent was obtained from all individuals included in this study.
References
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
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Artikel in diesem Heft
- Frontmatter
- Editorial
- Obesity after the Covid-19 pandemic and beyond
- Review Article
- Clinical profile and management challenges of disorders of sex development in Africa: a systematic review
- Original Articles
- Development and validation of a mobile application for point of care evaluation of growth failure
- Children-Dietary Inflammatory Index (C-DII), cardiometabolic risk, and inflammation in adolescents: a cross-sectional study
- Accelerated pubertal onset in short children with delayed bone age
- Screening for hypophosphatasia: does biochemistry lead the way?
- Subcutaneous regular insulin use for the management of diabetic ketoacidosis in resource limited setting
- NPR2 gene variants in familial short stature: a single-center study
- The effect of the COVID-19 pandemic on metabolic control in children with type 1 diabetes: a single-center experience
- Evaluating a standardized protocol for the management of diabetes insipidus in pediatric neurosurgical patients
- Development and assessment of a low-health-literacy, pictographic adrenal insufficiency action plan
- Effect of insulin resistance on lung function in asthmatic children
- A major health problem facing immigrant children: nutritional rickets
- Clinical profile, etiology, and diagnostic challenges of primary adrenal insufficiency in Sudanese children: 14-years’ experience from a resource limited setting
- Non-inferiority of liquid thyroxine in comparison to tablets formulation in the treatment of children with congenital hypothyroidism
- Short Communication
- Increased frequency of idiopathic central precocious puberty in girls during the COVID-19 pandemic: preliminary results of a tertiary center study
- Case Reports
- Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report
- Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 – a case report
- Myxedema crisis and ovarian hyperstimulation in a child with Down syndrome
- First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient
