RESUMO
PURPOSE: Primary hypertrophic osteoarthropathy (PHO) is an inherited disease characterized by digital clubbing, periostosis and pachydermia with defects in the degradation of prostaglandin E2 (PGE2). Mutations in SLCO2A1 gene-encoding prostaglandin transporter (PGT) resulted in PHO, autosomal recessive 2 (PHOAR2). The spectrum of mutations and variable clinical complications of PHOAR2 has been delineated. In this study, we investigated a Chinese PHO family with a manifestation of Bartter-like hypokalemia. METHODS: Clinical manifestations were collected and genetic analyses were performed in the PHO family. RESULTS: The 33-year-old male proband had severe hypokalemia due to potassium loss from the kidney, while his brother had mild hypokalemia. After being treated with etoricoxib, the serum potassium level of the patient increased rapidly to the normal range which corresponded with the reduction in his serum PGE2 and PE2 metabolite (PGEM) levels. A novel SLCO2A1 compound heterozygous mutation of p.I284V and p.C459R was identified in two PHO patients in this family. CONCLUSIONS: The present findings supported that the Bartter-like hypokalemia is a new complication of PHOAR2 caused by the high level of PGE2. Etoricoxib was demonstrated to be effective for the renal hypokalemia in PHO patients.
Assuntos
Síndrome de Bartter/genética , Hipopotassemia/genética , Mutação de Sentido Incorreto , Transportadores de Ânions Orgânicos/genética , Osteoartropatia Hipertrófica Primária/genética , Adulto , Povo Asiático/genética , Síndrome de Bartter/complicações , China , Análise Mutacional de DNA , Família , Heterozigoto , Humanos , Hipopotassemia/etiologia , Masculino , Osteoartropatia Hipertrófica Primária/complicações , LinhagemRESUMO
Eighty-two patients with lung cancer confirmed by cytology and/or histology were treated by bronchial artery chemotherapy infusion. There were 61 males and 21 females. The ages ranged from 30 to 75 years with an average of 54.6. Histologic types were 48 squamous cell carcinomas (58.5%), 20 adenocarcinomas (24.4%), and 14 undifferentiated small cell carcinomas (17.1%). TNM classification showed 28 Stage IIIa, 32 Stage IIIb and 22 Stage IV. Sixty-nine patients were treated by Cis-platinum combined with cyclophosphamide (84.1%). The results showed that 20 patients had complete response (24.4%), 28 partial response (34.1%), 25 stability (30.5%), 8 progression (9.8%) and 1 died (1.2%). Ten patients underwent lung resection after infusion of drugs. The factors influencing prognosis and complications are discussed.