• Childhood Kidney Diseases
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• 제26권2호
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• pp.107-110
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• 2022

Nephrogenic diabetes insipidus, decreased ability to concentrate urine, with production of large amounts of urine, is caused by the refractory response of renal tubules to the action of antidiuretic hormone. This rare disorder, known as X-linked nephrogenic diabetes insipidus, is caused by a mutation in the AVPR2 gene. Because it is hereditary, most patients are male. This report highlights a case of nephrogenic diabetes insipidus in a 3-year 5-month-old female; upon presentation to the hospital, her symptoms included frequent urinationand consumptionof a significant amount ofwater,which had begun2 years ago. The results of blood tests showed increased levels of serum antidiuretic hormone, and sellar magnetic resonance imaging showed no abnormality. The results of the water restriction test and the desmopressin administration test confirmed the diagnosis of nephrogenic diabetes insipidus showing a partial response to desmopressin. The results of genetic testing indicated the presence of an AVPR2 mutation, a heterozygous missense mutation (p.Val88Met), suggesting inheritance of X-linked nephrogenic diabetes insipidus. This report describes a significant case of symptomaticX-linked nephrogenic diabetes insipidus in a female patient who showed a partial response to desmopressin.

• 정신신체의학
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• 제4권1호
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• pp.91-97
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• 1996

Lithium is a widely used important drug in the treatment of manic-depressive illness and its prevention of relapse. However, this drug has a Low therapeutic index, therefore, it has many attendant side effects. The most prevalent renal effect of lithium is impairment of concentrating ability and this defect appeared into overt polyuria. A renal lesion is confined to the collecting tubule and 12-20% of patients taking lithium suffer from nephrogenic diabetes insipidus. This nephrogenic diabetes insipidus causes the states of extracellular fluid depletion, hypernatremia and precipitates lithium intoxication. In such situation, symptoms of nephrogenic diabetes insipidus and lithium intoxication are very similar, so we should be very cautious to discriminate them. We herein report a patient characterized by a prolonged stuporous state, hypernatremia and severe nephrogenic diabetes insipidus during lithium therapy.

• 대한한방소아과학회지
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• 제19권2호
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• pp.229-241
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• 2005

Objective : This study was designed to investigate causes, symptoms and treatments for the diabetes insipidus with oriental medical literatures. Methods : We surveyed the oriental and western medical books from to recent published bocks that have articles on diabetes insipidus Results and Conclusions : The symptoms of diabetes insipidus are polyuria and polydipsia, these are similar symptoms of Pae-so(肺消), Gouk-so, So-gal(消渴), Sang-so(上消), Sin-so(腎消), So-sin(消腎), Ha-so(下消) and Sin-jung(腎中) of kinds of So-gal(消渴) in the oriental medicine. The major causes of diabetes insipidus are the deficiency of the yin of the kidney, the heat of the heart and the dryness of the pulmonary. The methods of treatment are tonifying the yin of the kidney(滋補腎陰), tonifying qi and arrest discharges(益氣固澁), removing heat to moisten dryness (淸熱潤燥) and promoting fluid production to quench thirst(生津止葛). The herbal-medications for treatment are So-galbang and Yidongtang(消渴方合二冬湯), Ryoumijihawangtang gamibang(六味地黃湯加味方).

• Childhood Kidney Diseases
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• 제15권2호
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• pp.172-178
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• 2011

신성 요붕증은 항이뇨 호르몬의 혈중 농도가 높음에도 불구하고, 신장이 항이뇨 호르몬에 반응하지 못하여 생기는 유전질환이다. 신장이 항이뇨 호르몬에 반응하지 못하면 신장의 농도 조절 작용과 수분재흡수의 기능이 상실되어 많은 양의 저장(hypoto-nic) 상태의 뇨를 체외로 배출함으로써 탈수증에 이르게 된다. 저자들은 가족성 신성 요붕증으로 진단받은 형제에서 AVPR2 유전자의 hemizygous c.910 delG mutation를 발견하여 문헌 고찰과 함께 보고하는 바이다.

• Journal of Chest Surgery
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• 제19권2호
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• pp.325-330
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• 1986

Eosinophilic granuloma is one of the histiocytosis X. It may occur in any bone and tissues, but the one originated from the sternum was rarely reported. Recently, we experienced an eosinophilic granuloma at the manubrium sterni, associated with diabetes insipidus, which was surgically resected. Although intranasal spray of DDAVP has been used for the control of diabetes insipidus, the bony lesion was remitted. With the brief review of the literatures, we report the case.

• Childhood Kidney Diseases
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• 제20권2호
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• pp.88-91
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• 2016

Nephrogenic diabetes insipidus (NDI) can cause nonobstructive hydronephrosis. Congenital NDI (CNDI) is caused by a genetic mutation. This case report presents a 12-year-old girl who was incidentally diagnosed with nonobstructive hydronephrosis due to NDI caused by AQP2 gene mutation after being evaluated for microscopic hematuria found on routine health examination at school. The patient's medical and family history was unremarkable, and she complained of nocturia only at the time of the clinic visit. Bilateral hydronephrosis on abdominal ultrasonography prompted a water deprivation test, leading to diagnosis of NDI. Genetic study confirmed p.Asn (AAC)123Ser (AGC) in exon 2 of the AQP2 gene. Polyuria and hydronephrosis improved following arginine-vasopressin therapy. CNDI responsive to treatment should be considered as a possible cause of nonobstructive hydroureter.

• Journal of Chest Surgery
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• 제38권12호
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• pp.866-869
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• 2005

랑게르한스 세포 조직구증(Langerhans Cell Histiocytosis)은 병적인 랑게르한스 세포의 과도한 증식과 침윤으로 생기는 병으로 병태 생리가 확실하게 밝혀져 있지 않다. 소아에서 백만명 당 3$\∼$4명의 발생률을 보이나 성인의 경우 그 발생빈도가 확실치 않다. 피부, 귀, 골수, 간, 비장, 폐, 뇌하수체-시상하부, 위장관 등 거의 모든 장기가 침범되며 뇌하수체-시상하부 축이 침범되면 요붕증이 발생한다. 원발성 폐 랑게르한스 세포 조직구증이 타장기의 침범과 동반되는 경우는 드물며, 요붕증을 동반한 경우는 더욱 드물다. 국내에서 랑게르한스 세포 조직구증 중 요붕증을 동반한 예는 다수의 보고가 있었으나 중추신경계 등 폐 이외의 장기침범이었으며 원발성 폐 랑게르한스 세포 조직구증과 동반된 중추성 요붕증은 1예가 보고되었다. 저자는 중추성 요붕증을 동반한 폐 랑게르한스 세포 조직구증을 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Tuberculosis and Respiratory Diseases
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• 제78권4호
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• pp.463-468
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• 2015

Pulmonary Langerhans cell histiocytosis is an uncommon diffuse cystic lung disease in adults. In rare cases, it can involve extrapulmonary organs and lead to endocrine abnormalities such as central diabetes insipidus. A 42-year-old man presented with polyphagia and polydipsia, as well as a dry cough and dyspnea on exertion. Magnetic resonance imaging of the hypothalamic-pituitary system failed to show the posterior pituitary, which is a typical finding in patients with central diabetes insipidus. This condition was confirmed by a water deprivation test, and the patient was also found to have type 2 diabetes mellitus. Computed tomographic scanning of the lungs revealed multiple, irregularly shaped cystic lesions and small nodules bilaterally, with sparing of the costophrenic angles. Lung biopsy through video-assisted thoracoscopic surgery revealed pulmonary Langerhans cell histiocytosis. On a follow-up visit, only 1 year after the patient had quit smoking, clinical and radiological improvement was significant. Here, we report an uncommon case of pulmonary Langerhans cell histiocytosis that simultaneously presented with diabetes insipidus and diabetes mellitus.

• 대한수의학회지
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• 제51권4호
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• pp.319-323
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• 2011

A 12-year-old spayed female Yorkshire terrier dog was presented with two-weeks history of lethargy, mental dullness and polydipsia. Neurologic examination revealed proprioceptive defect of all limbs and loss of swallowing gag reflex. The dog revealed persistent dehydration, hypernatremia, hyperosmolarity and hyposthenuria. On magnetic resornance imaging (MRI), the mass were heterogeneous signality on T1 weighted images, hyperintense signality on T2 weighted image with contrast enhancement on hypothalamohypophyseal lesion. Based on these findings, the dog was suspected as having pituitary gland tumor. Through water deprivation test and response to desmopressin acetate (1-deamino-8-D-arginine, DDAVP), this case was diagnosed by central diabetes insipidus (CDI). This paper reports the clinical sign, MRI, response to the exogenous antidiuretic hormone of CDI due to suspected pituitary tumor in a dog and DDAVP administration was evaluated effective therapy to correct hypernatremia induced by CDI.

• Childhood Kidney Diseases
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• 제9권2호
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• pp.269-274
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• 2005

저자들은 불규칙한 발열은 주소로 내원한 5개월 된 어린 영아에서 유전자 검사를 통하여 선천성 신성 요붕증을 조기 확진하였으며 thiazide 치료에 반응을 보였기에 문헌고찰과 함께 보고하는 바이다.