Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus
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Milena Brugnara
Abstract
We report the case of an infant boy with polyuria and a familial history of central diabetes insipidus. Laboratory blood tests disclosed hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Plasma magnesium concentration was slightly low. Urine analysis showed hypercalciuria, hyposthenuria, and high excretion of potassium. Such findings oriented toward type III Bartter syndrome (BSIII). Direct sequencing of the CLCNKB gene revealed no disease-causing mutations. The water deprivation test was positive. Magnetic resonance imaging showed a lack of posterior pituitary hyperintensity. Finally, direct sequencing of the AVP-NPII gene showed a point mutation (c.1884G>A) in a heterozygous state, confirming an autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI). This condition did not explain the patient’s phenotype; thus, we investigated for Gitelman syndrome (GS). A direct sequencing of the SLC12A3 gene showed c.269A>C and c.1205C>A new mutations. In conclusion, the patient had a genetic combination of GS and adFNDI with a BSIII-like phenotype.
References
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©2014 by De Gruyter
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Articles in the same Issue
- Frontmatter
- Review article
- Towards an optimization of the management of endocrine complications of thalassemia
- Original articles
- The natural course of Hashimoto’s thyroiditis in children and adolescents
- Muscle strength and body composition during the transition phase in patients treated with recombinant GH to final height
- Benign vaginal bleeding in 24 prepubertal patients: clinical, biochemical and imaging features
- Evaluation of epicardial adipose tissue, carotid intima-media thickness and ventricular functions in obese children and adolescents
- Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty
- Pubertal development profile in patients with Turner syndrome
- A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder
- Serum insulin-like growth factor-binding protein-3 level correlated with glycemic control and lipid profiles in children and adolescents with type 1 diabetes
- Adult human liver mesenchymal progenitor cells express phenylalanine hydroxylase
- Clinical applicability of rapid detection of SRY and DYS14 genes in patients with disorders of sex development using an indigenously developed 5′ exonuclease based assay
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
- Permanent neonatal diabetes mellitus in Jordan
- The effect of adenotonsilectomy on ghrelin, leptin, IGF-1 levels and growth parameters in children with adenotonsillar hypertrophy
- The role of anti-Mullerian and inhibin B hormones in the evaluation of 46,XY disorders of sex development
- The evaluation of thyroid carcinoma in childhood and concomitance of autoimmune thyroid disorders
- Lipid patterns in treated growth hormone deficient children vs. short stature controls
- Assessment of aortic morphology and compliance in children and adolescents with Ullrich-Turner syndrome (UTS) using magnetic resonance imaging (MRI)
- Management of central diabetes insipidus with oral desmopressin lyophilisate in infants
- Maternal factors and complications of preterm birth associated with neonatal thyroid stimulating hormone
- Patient reports
- A rare case of pituitary infarction leading to spontaneous tumour resolution and CSF-sella syndrome in an 11-year-old girl and a review of the paediatric literature
- Rare case of homozygous epimerase deficiency and heterozygous of duarte 2 variant
- Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p
- Growth hormone treatment in a patient with Hurler-Scheie syndrome
- Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction
- Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome
- Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus
- Cushing’s syndrome: hidden risk in usage of topical corticosteroids
- Prader-Willi syndrome: a case report with atypical developmental features
- Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps
- Ectopic Cushing syndrome secondary to metastatic medullary thyroid cancer in a child with multiple endocrine neoplasia syndrome type 2B: clues to early diagnosis of the paraneoplastic syndromes
- Ovarian hyperstimulation syndrome treated by medroxyprogesterone acetate
- Symptomatic cerebral infarction in a child with severe diabetic ketoacidosis
- A rare case of familial Cushing’s syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease
- Multiple autoimmunity, type 1 diabetes (T1DM), autoimmune thyroiditis and thyroid cancer: is there an association? A case report and literature review
- Cholestasis and protein-losing enteropathy secondary to hyperthyroidism in a 6-year-old girl
- Short communication
- An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis
- Letter to the Editor
- Pubertal gynecomastia: what about the remaining 10%?
