同一家庭中不同亚型的假性甲状旁腺功能减退症，索引病例有不寻常的精神症状表现。
Different subtypes of pseudohypoparathyroidism in the same family with an unusual psychiatric presentation of the index case.
作者信息
Pollard A J, Prendergast M, al-Hammouri F, Rayner P H, Shaw N J
机构信息
Department of Child and Adolescent Psychiatry, Children's Hospital, Birmingham.
出版信息
Arch Dis Child. 1994 Feb;70(2):99-102. doi: 10.1136/adc.70.2.99.
Abstract
A 13 year old Asian girl presenting with apparent hysterical paralysis and subsequent rapid cycling bipolar mood disorder was found to have biochemical evidence of pseudohypoparathyroidism type II. The mood disorder responded to treatment of the pseudohypoparathyroidism with a vitamin D analogue. Investigation of her parents and siblings showed phenotypes consistent with two distinct types of pseudohypoparathyroidism (type I and type II) in different family members.
摘要
一名13岁的亚洲女孩，最初表现为明显的癔症性麻痹，随后出现快速循环型双相情感障碍，经检查发现有II型假性甲状旁腺功能减退的生化证据。使用维生素D类似物治疗假性甲状旁腺功能减退后，该情感障碍得到缓解。对其父母和兄弟姐妹的调查显示，不同家庭成员的表型符合两种不同类型的假性甲状旁腺功能减退（I型和II型）。
相似文献
1
Different subtypes of pseudohypoparathyroidism in the same family with an unusual psychiatric presentation of the index case.同一家庭中不同亚型的假性甲状旁腺功能减退症，索引病例有不寻常的精神症状表现。
Arch Dis Child. 1994 Feb;70(2):99-102. doi: 10.1136/adc.70.2.99.
2
Familial pseudohypoparathyroidism without somatic anomalies.无躯体异常的家族性假性甲状旁腺功能减退症。
Can Med Assoc J. 1980 Jul 5;123(1):26-31.
3
Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia.
J Pediatr. 1985 Dec;107(6):919-22. doi: 10.1016/s0022-3476(85)80189-x.
4
Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency.
Ann Intern Med. 1986 Aug;105(2):197-9. doi: 10.7326/0003-4819-105-2-197.
5
Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance.希腊一个家族中Ib型假性甲状旁腺功能减退症的表型和分子遗传学特征：甲状旁腺激素抵抗导致尿酸排泄增加的证据
J Clin Endocrinol Metab. 2004 Dec;89(12):5942-7. doi: 10.1210/jc.2004-0249.
6
Pseudohypoparathyroidism: its phenotypic variability and associated disorders in a large family.假性甲状旁腺功能减退症：一个大家族中的表型变异性及相关疾病
Q J Med. 1991 Mar;78(287):251-64.
7
Pseudohypoparathyroidism.假性甲状旁腺功能减退症
Ergeb Inn Med Kinderheilkd. 1979;42:191-221. doi: 10.1007/978-3-642-67239-2_4.
8
[Type I familial pseudohypoparathyroidism: clinical and hormonal study].[I型家族性假性甲状旁腺功能减退症：临床与激素研究]
Rev Clin Esp. 1993 Sep;193(4):172-5.
9
Father to son transmission of decreased Ns activity in pseudohypoparathyroidism type Ia.
J Clin Endocrinol Metab. 1984 Nov;59(5):825-8. doi: 10.1210/jcem-59-5-825.
10
Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.假性甲状旁腺功能减退症的当前命名法：甲状旁腺激素/甲状旁腺激素相关蛋白信号转导失活障碍
J Clin Res Pediatr Endocrinol. 2017 Dec 30;9(Suppl 2):58-68. doi: 10.4274/jcrpe.2017.S006. Epub 2017 Dec 27.
本文引用的文献
1
The psychiatric aspects of hypoparathyroidism.甲状旁腺功能减退症的精神方面问题。
Acta Psychiatr Scand Suppl. 1962;38(164):1-70.
2
Pseudo-pseudohypoparathyroidism.假假性甲状旁腺功能减退症
Trans Assoc Am Physicians. 1952;65:337-50.
3
[Efficacy of verapamil in mania crises].
Encephale. 1988 May-Jun;14(3):127-32.
4
Dissociation between the effects of endogenous parathyroid hormone on adenosine 3',5'-monophosphate generation and phosphate reabsorption in hypocalcemia due to vitamin D depletion: an acquired disorder resembling pseudohypoparathyroidism type II.维生素D缺乏导致低钙血症时内源性甲状旁腺激素对3',5'-环磷酸腺苷生成及磷酸盐重吸收作用的分离：一种类似II型假性甲状旁腺功能减退症的后天性疾病。
J Clin Endocrinol Metab. 1985 Aug;61(2):285-90. doi: 10.1210/jcem-61-2-285.
5
The Manchester Nurse Rating Scales for the daily simultaneous assessment of depressive and manic ward behaviours.
J Affect Disord. 1988 Jul-Aug;15(1):45-54. doi: 10.1016/0165-0327(88)90008-0.
6
Calcium function in affective disorders and healthy controls.钙在情感障碍和健康对照中的作用。
Biol Psychiatry. 1988 Feb 15;23(4):367-76. doi: 10.1016/0006-3223(88)90287-9.
7
Mechanisms of parathyroid hormone resistance in pseudohypoparathyroidism.假性甲状旁腺功能减退症中甲状旁腺激素抵抗的机制。
Clin Sci (Lond). 1988 Jun;74(6):561-6. doi: 10.1042/cs0740561.
8
Subclinical pseudohypoparathyroidism type II: evidence for failure of physiologic adjustment in calcium metabolism during pregnancy.II型亚临床假性甲状旁腺功能减退：孕期钙代谢生理性调节失败的证据
Am J Med Sci. 1989 Apr;297(4):247-50. doi: 10.1097/00000441-198904000-00010.
9
Hypocalcemia caused by pseudohypoparathyroidism presenting as convulsion.假性甲状旁腺功能减退所致低钙血症表现为惊厥。
Pediatr Emerg Care. 1989 Mar;5(1):22-3. doi: 10.1097/00006565-198903000-00006.
10
Effects of lithium on platelet ionic intracellular calcium concentration in patients with bipolar (manic-depressive) disorder and healthy controls.锂对双相（躁狂抑郁）障碍患者及健康对照者血小板细胞内钙离子浓度的影响。
Life Sci. 1990;46(16):1175-80. doi: 10.1016/0024-3205(90)90454-y.
Zotero 插件