10 一位6個月大的男孩由父母帶至門診求診,主訴自出生後即有異位性皮膚炎,易流鼻血,實驗室檢查發現血小板數目偏低,下列何者錯誤?
周邊血液抹片可見血小板變大
為性聯隱性遺傳(X-linked recessive)
病童常有皮膚、中耳或肺部之反覆感染
病人之體液型免疫反應(humoral immune response)有缺陷,常見IgM低下及IgA、IgE上升
A
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13 一位12歲女孩因身材矮小就診,父親身高160公分,母親身高152公分。去年曾發生一次全身性痙攣(generalized convulsion),身體檢查顯示身高133公分(低於第3百分位),體重47公斤(第90百分位),圓臉、輕微智障,實驗室檢查顯示血清鈣值1.53 nmol/L,血清磷值6.4 mg/dL,血清鎂1.1 mmol/L,血清副甲狀腺素(intact PTH)值245 pg/mL(正常值12-72 pg/mL),此女童最可能的診斷為:
hyperparathyroidism hypoparathyroidism
pseudohypoparathyroidism pseudopseudohypoparathyroidism
C
Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone.[1]Patients have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is actually appropriately high (due to the hypocalcemia). Its pathogenesis has been linked to dysfunctional G Proteins (in particular, Gs alpha subunit).
Pseudopseudohypoparathyroidism (pseudoPHP) is an inherited disorder, named for its similarity topseudohypoparathyroidism in presentation. The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.
It is sometimes considered a variant of Albright hereditary osteodystrophy
Condition | Appearance | PTH levels | Calcium | Imprinting |
---|---|---|---|---|
Hypoparathyroidism | Skeletal defects | low | low | not applicable |
Pseudohypoparathyroidism 1A | Skeletal defects | normal | low | gene defect from mother |
Pseudopseudohypoparathyroidism | Skeletal defects | normal | normal[4] | gene defect from father |
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