• Childhood Kidney Diseases
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• v.26 no.2
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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.

• Korean Journal of Psychosomatic Medicine
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• v.4 no.1
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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.

• The Journal of Pediatrics of Korean Medicine
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• v.19 no.2
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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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• v.15 no.2
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• pp.172-178
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• 2011

Nephrogenic diabetes insipidus is a rare genetic renal disease characterized by insensitivity of the kidney to the anti-diuretic effect of vasopressin in spite of elevated serum antidiuretic hormone (ADH). Failure of the kidney to respond to ADH results in impaired osmoregulation and water reabsorption of the kidney, therefore, nephrogenic diabetes insipidus presents with a large amount of hypotonic polyuria, polydipsia, and dehydration. We report our experience of two familial cases of nephrogenic diabetes insipidus in brothers both having c.910+1delG in intron 2 of the AVPR2 gene with the brief review of related literatures.

• Journal of Chest Surgery
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• v.19 no.2
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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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• v.20 no.2
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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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• v.38 no.12 s.257
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• pp.866-869
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• 2005

Langerhans Cell Histiocytosis (LCH) is a pathologic proliferation and infiltration of various organs by Langerhans' cells of unknown cause. Incidence rate of one million parties 3$\∼$4 is seen in young child but the incidence is not sure in adult. Organ systems involved by LCH may include skin, ear, bone marrow, liver, spleen, lung, pituitary gland - hypothalamus and Gl tracts. In case pituitary-hypothalamus axis are involved, diabetes insipidus happened. Primary Pulmonary Langerhans Cell Histiocytosis(PLCH) with uninvolvement of other organs is rare and accompanied diabetes insipidus is more rare. There are many cases of LCH with diabetes insipidus involve such as central nervous system except lung. PLCH accompany central diabetes insipidus is only 1 case. We report a case of PLCH that accompany central diabetes insipidus with literature investigation in Department of Thoracic and Cardiovascular Surgery, Hallym University.

• Tuberculosis and Respiratory Diseases
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• v.78 no.4
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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.

• Korean Journal of Veterinary Research
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• v.51 no.4
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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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• v.9 no.2
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• pp.269-274
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• 2005

Nephrogenic diabetes insipidus(NBI) is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone; arginine vasopressin(AVP). Polyuria with hyposthenuria, and polydipsia are the cardinal clinical manifestations of the disease. Ninety percent of congenital nephrogenic diabetes insipidus patients are males with the X-linked recessive form of the disease; the mutation is in the AVP receptor 2 gene(AVPR2), which is located in chromosomal region Xq28. We report a case of NDI who suffered from unexplained fever and failure to thrive, which has been recognized since about ,3 months after birth. His genomic DNA analysis identified a novel AVPR2 gene mutation as W200C. (J Korean Soc Pediatr Nephrol 2005;9:269-274)