• 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.

• 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.

• 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.

• 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.

• Childhood Kidney Diseases
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• 제24권2호
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• pp.131-137
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• 2020

Nephrogenic diabetes insipidus (DI) is a rare disease in which the patient cannot concentrate urine despite appropriate or high secretion of antidiuretic hormone. Congenital nephrogenic DI is caused by the arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2) gene mutation; the AVPR2 genetic mutation accounts for 90% of the cases. National health screening for infants and children was launched in 2007 in order to prevent accidents and promote public health in infants and children in Korea. The program has been widely used as a primary clinical service in Korea. We treated an infant with faltering growth and delayed development detected by the National health screening program, and diagnosed the problem as nephrogenic DI caused by a rare missense mutation of c.490T>C on the AVPR2 gene. This case can be a good educational nephrogenic DI with a rare AVPR2 mutation, which was well screened and traced by the national health screening program for infants and children in Korea.

• Clinical and Experimental Pediatrics
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• 제45권7호
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• pp.902-905
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• 2002

선천성 신성 요붕증은 일반적으로 성염색체 열성 유전 양식을 취하여 보인자인 어머니로부터 아들에게 유전되고, 발생 빈도는 드문 것으로 알려져 있으며, 항이뇨호르몬의 혈장 농도가 정상이거나 상승되어 있으면서도 신세뇨관이 항이뇨호르몬에 대한 저항성 때문에 요농축능 장애가 발생하여 다음과 다뇨를 특징으로 하는 질환으로 이뇨제와 프로스타글란딘 합성억제제의 사용이 치료의 근간을 이루어 왔다. 본 증례에서 발견된 AVPR2 수용체 유전자의 돌연변이 부위는 선천성 신성 요붕증의 표현형을 보이는 것으로 외국에서는 보고된 바 있으나 국내에서는 최초로 확인된 것이며, 고용량의 항이뇨 호르몬과 이뇨제 치료에 반응을 보였다.

• 한국동물학회:학술대회논문집
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• 한국동물학회 1999년도 한국생물과학협회 학술발표대회
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• pp.255.2-255
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• 1999

No Abstract, See Full Text

• Childhood Kidney Diseases
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• 제27권2호
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• pp.121-126
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• 2023

The administration of angiotensin type 2 receptor blockers (ARBs) during pregnancy is known to cause ARB fetopathy, including renal insufficiency. We aimed to analyze the outcomes of two patients who survived ARB fetopathy and perform an accompanying literature review. Case 1 was exposed antenatally from a gestational age of 30 weeks to valsartan because of maternal pregnancy-induced hypertension. The patient presented with oliguria immediately after birth, and renal replacement therapy was administered for 24 days. Seven years after birth, renal function was indicative of stage 2 chronic kidney disease (CKD) with impaired urinary concentration. Case 2 had a maternal history of hypertension and transient ischemic attack and was treated with olmesartan until 30 weeks of pregnancy. Renal replacement therapy was performed for 4 days since birth. After 8 years, the patient is with CKD stage 2, with intact tubular function. Recent reports suggest that ARB fetopathy might manifest as renal tubular dysgenesis and nephrogenic diabetes insipidus, in contrast to mild alterations of glomerular filtration. Tubular dysfunction may induce CKD progression and growth retardation. Patients with ARB fetopathy should be monitored until adulthood. The ARB exposure period might be a critical factor in determining the severity and manifestations of fetopathy.

• Childhood Kidney Diseases
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• 제16권2호
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• pp.126-131
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• 2012

쇠그렌 증후군은 주로 침샘과 눈물샘을 침범하는 자가 면역 질환으로, 폐나 간, 콩팥, 췌장, 피부, 신경계 등의 다른 장기 역시 침범하여 임상 증상을 나타내기도 한다. 성인의 경우 이런 다른 장기와 관련된 증상은 드물지 않으나 소아에서는 매우 드물다고 알려져 있다. 특히 콩팥을 침범한 쇠그렌 증후군은 성인의 경우 비교적 흔하지만 소아는 매우 드문데, 이에 본 저자들은 신성 요붕증과 신세뇨관 산증을 주 증상으로 진단한 소아의 일차성 쇠그렌 증후군 1례를 경험하였기에 보고한다.