RESUMO
Autosomal dominant polycystic kidney disease (ADKPD) is the most frequent type of polycystic kidney disease. It is inherited through family members, with an incidence of approximately 1:400 to1:1000.Typically, individuals with ADKPD are identified between their fourth and fifth decade of life. ADKPD occurs as a results of mutation in one of the two genes, PDK1 and PDK2.Patients with PKD1 experience renal failure at an earlier onset than those with PKD2. We report on a 2 year-old-boy with hepatosplenomegaly and signs of portal hypertension. Both kidneys appeared normal until the age of 8, when multiple cysts developed, this being typical of ADKPD. Suspecting ADKPD, we performed whole exome sequencing, thereby confirming a mutation of c.6730 673del p.(Ser 2244Hisfs*17). The investigations of all family members found other individuals affected by ADKPD.
RESUMO
Morbidity and mortality patterns, health care practices, and health care beliefs were assessed over three seasons in Pwo and Sgaw Karen preschool children living in the highlands of northwest Thailand. The sample consisted of all preschool children from 77 Pwo and 71 Sgaw households. Although the Pwo and Sgaw Karen residing in the highlands of northwest Thailand live in isolated villages in the same ecozone, utilize similar technologies, have similar access to health facilities, and maintain a certain level of sociocultural homogeneity through their identification as Karen, Pwo preschool children exhibit significantly higher levels of morbidity and mortality than their Sgaw counterparts. It is argued that these differences in morbidity and mortality are primarily the function of historical patterns which resulted in an earlier contact of the Sgaw with modem societies and particularly with an earlier exposure to western health care.