peds15 Flashcards

1
Q

most common cause of congenital hypothyroidism

A

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

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2
Q

thyroid dyshormonegenesis

A

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

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3
Q

pendred syndrome

A

most common thyroid dyshormonegenesis and is associatied with sensorineural hearing loss

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4
Q

clinical features of hypothyroidism

A

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

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5
Q

management of hypothyroidism

A

L-thyroxine; must start ASAP to avoid brain damage

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6
Q

hashimotos disease

A

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

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7
Q

hashitoxicosis

A

transient hyperthyroidism that may occur in some patients

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8
Q

clinical features of hyperthyroidism

A

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

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9
Q

most common cause of hyperthyroidism in children

A

graves disease

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10
Q

anti-thyroid medications

A

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

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11
Q

radioactive iodine

A

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

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12
Q

what releases calcium and phosphorous from bone?

A

vit D and PTH

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13
Q

PTH

A

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

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14
Q

effect of PTH on the kidney

A

calcium and bicarb reabsorption and phos excretion

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15
Q

what happens in the kidney with vit D?

A

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

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16
Q

pseudohypocalcemia

A

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

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17
Q

clinical features of hypocalcemia

A

tetany (carpopedal spasm, laryngospasm, paresthesia), seizures

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18
Q

early neonatal hypocalcemia

A

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

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19
Q

late neonatal hypocalcemia

A

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

20
Q

childhood hypocalcemia

A

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

21
Q

how does hypomagnesemia cause hypocalcemia?

A

interferes with PTH release

22
Q

heart finding in hypocalcemia

A

prolonged QT interval

23
Q

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

A

decreased serum levels of both

24
Q

how to evaluate for rickets

A

radiograph of wrists or knees

25
Q

rickets

A

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

26
Q

factors that predispose to rickets

A

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

27
Q

how can Gi disorders lead to rickets?

A

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

28
Q

vit D-dependent rickets

A

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

29
Q

vit D resistant rickets

A

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
Q

oncogenous rickets

A

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

31
Q

clinical features of rickets

A

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
Q

rachitic rosary

A

prominent costochondral junctions seen in rickets

33
Q

diabetes insip

A

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

34
Q

langerhans cell histiocytosis

A

can be a causes of DI

35
Q

granulomatous disease

A

sarcoidosis, tuberculosis for example; can lead to central DI

36
Q

nephrogenic DI

A

x-linked recessive disorder

37
Q

management of central DI

A

DDAVP

38
Q

symptoms of hypoglycemia in newborns

A

lethargy, myoclonic jerks, cyanosis, apnea, or seizures

39
Q

symptoms of hypoglycemia in older children

A

tachycardia, diaphoresis, tremores, headaches, or seizures

40
Q

Transient neonatal hypoglycemia

A

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

41
Q

persistent neonatal hypoglycemia

A

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

42
Q

causes of hyperinsulinemia in new born

A

islet cell hyperplasia (nesidioblastosis), beckwith-weidemann syndrome

43
Q

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

A

think congenital hypopituitarism

44
Q

what hormone def can lead to hypoglycemia?

A

GH def and cortisol def

45
Q

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

A

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

46
Q

ingestions of what should be considered in ddx of hypoglycemia?

A

alcohol, oral hypoglycemic agents