What Does the General Pediatrician Do When There Are Concerns for a Rare Disease?

Discussion Bardet-Biedl syndrome (BBS) is a rare disorder. It is usually considered an autosomal recessive disorder but there is significant intra-familial variability. There are multiple genes (~20 currently) involved and it is believed that the phenotypic variability is due to “…differences in the total mutational load across different BBS associated genes….” It is a ciliopathy where mutation changes in proteins in the cilias causes problems in the cilia’s functioning particularly signaling. Cilia are important in signaling to maintain tissue and cellular homeostasis. Obviously screening of affected family members would be important, particularly siblings as they would have ~25% chance of being affected. Genetic counseling for future pregnancies is also important. BBS is usually diagnosed with a patient having 4 primary features or 3 primary and 2 secondary features. Polydactyly will be present at birth but the other problems usually develop over the first 2 decades. Primary features Rod-cone dystrophy -> 90% affected, usually before adulthood and is usually the reason for most morbidity Obesity (central) – 72-92% affected, less severe in childhood but increases with age Polydactly – 63-81% affected Learning problems/Mental retardation – 50-61% affected with various learning problems, speech, intellectual disabilities and behavior problems Hypogonadism – 59-98% affected, males generally have micropenis and/or small...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news