Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation.

Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter. GS is characterized by hypokalaemia, hypomagnesaemia and metabolic alkalosis. Treatment is based on potassium and magnesium replacement ad eternum. We present the case of a young man with palpitations and persistent hypokalaemia, who was diagnosed with GS. Genetic testing revealed 2 mutations in the gene SLC12A3 of combined heterozygosity, both considered pathological. Interestingly, 1 of these mutations was not yet described in the literature or in the reviewed databases. We also discuss the clinical approach and the specificities of managing this rare hereditary renal tubulopathy.. LEARNING POINTS: Gitelman syndrome is a rare cause of persistent hypokalaemia.A definitive diagnosis is determined by the identification of mutations in the SLC12A3 gene.Management consists of chronic potassium and magnesium supplementation aimed at symptom control.

Lymphomatoid Granulomatosis in HIV-2: A Rare Entity.

Lymphomatoid granulomatosis (LYG) is a rare B-cell lymphoproliferative disorder associated with Epstein-Barr virus (EBV) infection and is frequently associated with immunodeficiency. Pulmonary involvement with angiocentric distribution is the most common clinical manifestation. Diagnosis is confirmed by tissue biopsy, usually from lung lesions. Due to the paucity of reported cases, there is no validated treatment for LYG. Therapeutic options include interferon-alpha, systemic corticosteroids, rituximab, chemotherapy, and autologous hematopoietic stem cell transplantation. We report a case of a 49-year-old man, with human immunodeficiency virus type 2 (HIV-2) infection, who was diagnosed with LYG with lung involvement and had a full remission after treatment with R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone).

Osler-Weber-Rendu Syndrome with Severe Hepatic Manifestations: A Rare Clinical Case.

Rendu-Osler-Weber syndrome is a rare inherited syndrome with autosomal dominant transmission characterized by systemic arteriovenous malformations (AVMs) with multi-organ involvement. Its incidence is 1-2/100,000 and it is predominant in females (the male/female ratio varies from 1:2 to 1:4.5). Clinical manifestations and complications are related to recurrent bleeding and, in some cases, the development of end-organ failure. Management is mostly supportive care and it is essential to promote control of the disease as much as possible and screen eventual complications. We describe the case of a 67-year-old male patient with Rendu-Osler-Weber syndrome admitted to the emergency department with decompensated heart failure due to acute anaemia because of severe epistaxis. During hospitalization, the patient progressed to acute-on-chronic liver failure with hepatic encephalopathy and an abdominal computed tomography scan showed multiple hepatic AVMs considered to be the cause of the chronic liver disease. LEARNING POINTS: Rendu-Osler-Weber syndrome is a rare autosomal dominant syndrome characterized by systemic arteriovenous malformations (AVMs) with multi-organ involvement, in which the most common manifestation is recurrent epistaxis.In more severe cases the prognosis is determined by organ dysfunction caused by AVMs, including hepatic involvement, which happens in 74-79% of cases, leading to poor outcomes.The treatment is mainly supportive care so early recognition of major organ involvement is fundamental to prevent severe complications.