Potpourri
This FDA approved pump provides the lowest target number at what number?
Twiist pump, target 87. Approved for kids 6 and up.
A cribriform morular thyroid carcinoma, should prompt screening of this gene and it's associated condition?
APC gene for FAP
10 year old female with short stature, brachydactyly, macrocephaly and mild retrognathia. She is tanner 3 breast development and pre-menarcheal. Her arms and legs appear short. What FDA approved medication and mechanism of action would be best indicated in this child?
Voxzogo (vosoritide)
Mechanism: analog of C-type natriuretic peptide (CNP), a protein that regulates bone growth. It binds to NPR-B, a receptor on the surface of chondrocytes (cartilage cells) which then activates a signaling pathway that antagonizes fibroblast growth factor receptor 3 (FGFR3).
FGFR3 is a gene that plays a role in regulating bone growth. In achondroplasia, FGFR3 is overactive, leading to abnormal bone growth and short stature.
13 year old male presents with hypertension with BP of 170/90 after experiencing chest pain and headaches. On chemistry, he has a K of 2.8 and no family history of HTN. His habitus is otherwise normal with a BMI at 75%tile. Labs show a renin of < 0.15 ng/ml, and serum aldosterone is 54.1 ng/dl (1.4-17.3). CT abdomen negative. What is the cause of this patients HTN?
GRA
AD condition due to genetic defect that gives rise to a fusion of the promotor region of the CYP11B1 with the CYP11B2 (aldosterone synthase) leading to aldosterone being expressed in the zona fasciculata and excess aldosterone is secreted in response to plasma ACTH. Treatment with dexamethasone.
8 year old male with early onset obesity at 4 years of age with BMI 140% of 95%tile and vision loss. Mother also expresses concerns that teachers are concerned about his hearing. His height is at the 3rd%tile and he has no history of growth attenuation per se. You consult with optho and he is found to have retinal dystrophy and nystagmus. What is the genetic cause of this patients presentation?
Alstrom Syndrome: ALMS1
Alström syndrome (AS) is an ultra-rare genetic condition that is inherited in an autosomal recessive pattern. The pathophysiology of this disease is extremely complex and involves the ALMS1 gene. Due to the ubiquitous expression of the ALMS1 protein in various tissues, multiple body systems are affected. Ocular manifestations of the disease include rod-cone dystrophy, photophobia and nystagmus. Sensorineural hearing loss is also common in Alström patients. Metabolic complications associated with this syndrome include: childhood obesity, hepatic steatosis, hypertriglyceridemia, and insulin resistance which in turn leads to early-onset diabetes
You are evaluating a 2 week old with a history of SGA and now failure to thrive. He was born full term and is listless but a ravenous eater. He has had watery diarrhea and consistent wet diapers. On PE, he has macroglossia, umbilical hernia and clinodactyly. What is the likely cause of patients diagnosis and from what defect?
Neonatal diabetes 2/2 uniparental disomy of chromosome 6.
UPD of chromosome 6 classically present with macroglossia, umbilical hernia and neonatal diabetes. They can also present with dysmorphic facies, renal tract abnormalities, cardiac anomalies, clinodactyly, polydactyly, and hypothyroidism. Cause of TND but DM may recur in adolescence or later in adulthood.