Objectives: To summarize the diagnosis and treatment course of hyperkalemia in twins, review the diagnosis approach of hyperkalemia in neonate and guide clinical practice.
Methods: The clinical manifestation, laboratory examination, the course of diagnosis and treatment of the two cases were summarized.
Results: A pair of twin girls, 38 days after birth, came to our department because of Hyperkalemia more than one month. Twins were MCDA, with the gestational age 37 weeks. Postnatal routine biochemical examination showed hyperkalemia. Laboratory test in local hospital showed that arterial blood gas analysis, urine routine and renal function were normal, Doppler ultrasound of kidney was normal. For further diagnosis and treatment, the twins were administrated in NICU of our hospital.Since the onset of the disease, no vomiting or diarrhea. Mother of the twins was found high blood pressure and elevated blood potassium at the time of pregnancy. When admitted to our hospital, the physical examination showed that B1:BP 93/46 mmHg, BP 93/61 mmHg. According to the family history of hyperkalemia and no dehydration, the twins gained 1.1 kg and 1.2 kg body weight on 38 days after birth respectively, blood pressure increased, serum renin activity decreased obviously, so they were clinically diagnosed as Gordon syndrome. Twins and mother had the same heterozygous c. 230c > a mutation in exon 3 of the KLHL3 gene in chromosome 5, conforming the diagnosis of Gordon syndrome. Twins were treated with hydrochlorothiazide 2 mg/kg.d orally. Serum potassium and blood pressure decreased gradually.
Conclusions: The family history of hyperkalemia, accompanied by hypertension, no dehydration, low renin activity, is highly indicative of Gordon syndrome.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology