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Flashcards in peds15 Deck (46):
1

most common cause of congenital hypothyroidism

thyroid dysgenesis; absent or hypoplasia; or ectopic thyroid gland anywhere from tongue to mid-chest

2

thyroid dyshormonegenesis

inborn errors of thyroid synthesis; cause of congenital hypothyroidism; usually presents with goiter

3

pendred syndrome

most common thyroid dyshormonegenesis and is associatied with sensorineural hearing loss

4

clinical features of hypothyroidism

history of prolonged jaundice and poor feeding; lethargy and constipation; large ant and post fontanelles; protruding tongue, umbilical hernia, etc.

5

management of hypothyroidism

L-thyroxine; must start ASAP to avoid brain damage

6

hashimotos disease

chronic lymphocytic thyroiditis; most common cause of acquired hypothyroidism; thyroid autoantibodies;

7

hashitoxicosis

transient hyperthyroidism that may occur in some patients

8

clinical features of hyperthyroidism

lid lag and exophthalmos; thyroid is smooth and enlarged; tachycardia, palpitations; skin is warm and flushed; tremors, delayed puberty

9

most common cause of hyperthyroidism in children

graves disease

10

anti-thyroid medications

PTU and methimazole both inhibit thyroid synthesis; ptu also impairs conversion of peripheral T4 to T3;

11

radioactive iodine

can be used in adolescents noncompliant with antithyroid meds; its useresults in permanent hypothyroidism

12

what releases calcium and phosphorous from bone?

vit D and PTH

13

PTH

releases calcium from bone and reabsorbs calcium from kidneys; releases phophorous from bone and excretes phos from kidneys

14

effect of PTH on the kidney

calcium and bicarb reabsorption and phos excretion

15

what happens in the kidney with vit D?

1-alpha hydroxylase vit D made int eh kidney converts 25-OH-vit D (made in the liver) to the active 1,25-OH vit D

16

pseudohypocalcemia

low serum albumin (like in nephrotic syndrome) lead to factitious lowering of calcium; make sure you measure ionized calcium level to verify true hypocalcemia

17

clinical features of hypocalcemia

tetany (carpopedal spasm, laryngospasm, paresthesia), seizures

18

early neonatal hypocalcemia

younger than 4 days of age; usually transient; hypomagnesemia may also result on hypocalcemia

19

late neonatal hypocalcemia

older than 4 days of age; can be caused by hypoparathyroidism, diGeorge syndrome, or hyperphosphatemia

20

childhood hypocalcemia

may be caused by hypoparathyroidism, pseudohypoparathyroidism (parathyroid resistance- would have elevated PTH), hypomagnesemia, or vit D def

21

how does hypomagnesemia cause hypocalcemia?

interferes with PTH release

22

heart finding in hypocalcemia

prolonged QT interval

23

vit d would have what effect on calcium and what effect on phosphorous

decreased serum levels of both

24

how to evaluate for rickets

radiograph of wrists or knees

25

rickets

vit D def that results in deficient mineralizationof growing bones with a normal bone matrix

26

factors that predispose to rickets

exclusively breastfed infants with minimal sunshine; fad diets; use of anticonvulsant meds (phenytoin, phenobarbitoal), which interfere w liver metabolism; renal or hepatic failure

27

how can Gi disorders lead to rickets?

fat malabsorption results in vit D def (CF, celiac disease)

28

vit D-dependent rickets

autosomal recessive, rare; enzyme def in the kidneys of 1 alpha hydroxylase vit D

29

vit D resistant rickets

aka familial hypophosphatemia; most common form of rickets; x-linked dom; caused by renal tubular phosphorous leak, resulting in low serum phosphorous; treat with phosphate supp and vit D analog

30

oncogenous rickets

phosphate deficient form of rickets caused by a bone or soft tissue tumor; should be considered in patients who present with bone pain or myopathy

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clinical features of rickets

usually in first two years of life and in adolescence; wrists, knees, and ribs affected; short stature; weight bearing bones are bowed; craniotabes, frontal bossing, delayed suture closure

32

rachitic rosary

prominent costochondral junctions seen in rickets

33

diabetes insip

inability to maximally concentrate the urine becase of low ADH or renal unresponsiveness to ADH

34

langerhans cell histiocytosis

can be a causes of DI

35

granulomatous disease

sarcoidosis, tuberculosis for example; can lead to central DI

36

nephrogenic DI

x-linked recessive disorder

37

management of central DI

DDAVP

38

symptoms of hypoglycemia in newborns

lethargy, myoclonic jerks, cyanosis, apnea, or seizures

39

symptoms of hypoglycemia in older children

tachycardia, diaphoresis, tremores, headaches, or seizures

40

Transient neonatal hypoglycemia

usually detected by screening for high-risk infants; high risk conditions include prematurity, fetal distress, SGA and LGA

41

persistent neonatal hypoglycemia

persists for longer than 3 days; can be caused by hyperinsulinemia, defects in carb metabolism or AA metabolism, or hormone def

42

causes of hyperinsulinemia in new born

islet cell hyperplasia (nesidioblastosis), beckwith-weidemann syndrome

43

neonate presents with hypoglycemia, microphallus, and midline defects like cleft palate

think congenital hypopituitarism

44

what hormone def can lead to hypoglycemia?

GH def and cortisol def

45

most common cause of hypoglycemia in kids 1-6 years old

ketotic hypoglycemia; occurs late morning in the presence of ketonuria and low insulin; due to inability to adapt to fasting state

46

ingestions of what should be considered in ddx of hypoglycemia?

alcohol, oral hypoglycemic agents