The atypical form of Gitelman syndrome with cerebral calcifications

Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome.

1 Professor da Faculdade de Medicina da Universidade de Fortaleza, UNIFOR, Fortaleza CE; Médico Neurologista Infantil do Hospital Estadual Albert Sabin, SESA-CE; Médico Colaborador do grupo de neurogenética do Centro de Estudos do Genoma Humano, ICB-USP, São Paulo SP, Brazil; 2 Acadêmico de Medicina da UNIFOR, Fortaleza CE, Brazil; 3 Neurologista do Hospital Geral de FortalezaHGF-SESA-CE, Forta...

Gitelman syndrome.

Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia. Clinical history was positive for symptoms of orthos...

Gitelman syndrome

In the past decade our understanding of the etiology and pathophysiology of Gitelman syndrome, an autosomal recessive salt-losing tubular disorder with secondary hypokalemia, has increased considerably through the achievements of molecular genetics and cell physiology. In this short review, I will summarize the most recent data on the clinical and biochemical phenotype, the molecular causes, an...

Gitelman syndrome

Bartter syndrome and Gitelman syndrome

Conclusions: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with sypmtoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman synd...