• 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.

• 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.

• Journal of Yeungnam Medical Science
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• 제22권2호
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• pp.259-265
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• 2005

Central diabetes insipidus (DI) is a syndrome characterized by thirst, polydipsia and polyuria. Langerhans cell histiocytosis is one of the etiologies of DI. Recently we experienced a central DI associated with Langerhans cell histiocytosis. The 44 years old female patient complained right hip pain, polydipsia and polyuria. We carried out water deprivation test. After vasopressin injection, urine osmotic pressure was increased from 109 mOsmol/kg to 327 mOsmol/kg (300%). Brain MRI showed a thickened pituitary stalk and air bubble like lesions sized with 5cm, 7cm was shown on fifth L-spine and right hip bone at hip bone CT. CT guided biopsy revealed abnormal histiocytes proliferation and abundant lymphocytes. The final diagnosis was central DI associated with systemic Langerhans cell histiocytosis invading hip bone, L-spine and pituitary stalk. Desmopressin and etoposide chemotherapy were performed to the patient.

• 한국동물위생학회지
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• 제45권2호
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• pp.139-143
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• 2022

A 10-year-old, spayed female miniature schnauzer was referred to the Veterinary Medical Teaching Hospital of Chungnam National University due to evaluation of sudden polyuria (PU) and, polydipsia (PD) (540 mL/kg/day) with severe anemia and weight loss. Blood examination results were normal except for severe anemia (hematocrit, [HCT]: 11.8%). Urinalysis revealed a urine specific gravity (USG) of 1.003, whereas urine sediment was not specific. Urine osmolality was 90 mOsm (reference range: 800~2500 mOsm), and plasma osmolality was 303 mOsm. No specific lesions were found using diagnostic imaging including radiography, ultrasonography and magnetic resonance imaging (MRI). The serum cortisol level was normal in cosyntropin stimulation test. Plasma arginine vasopressin (AVP) concentration was <0.4 pg/mL (reference range: 3.49~5.45 pg/mL). Blood transfusion was initiated in addition to an oral prescription of desmopressin acetate (DDAVP, 0.1 mg/head) thrice a day for one week. The patient was rechecked for clinical signs, urine osmolality, and USG; the clinical signs of PU/PD were resolved, urine osmolality increased to 1106 mOsm, and, USG increased to 1.021. Considering the improved clinical signs, and increased urine osmolality, and USG after DDAVP treatment, the dog was diagnosed with central diabetes insipidus. USG and urine osmolality increased to >1.030 and 2200 mOsm, respectively. Anemia also gradually improved and HCT increased to >37%. DDAVP was tapered to 0.1 mg/head twice a day and all clinical signs in the patient have completely resolved.

• Tuberculosis and Respiratory Diseases
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• 제46권1호
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• pp.110-115
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• 1999

저자들은 호흡곤란과 다음, 다뇨로 내원한 23세 남자에서 임상소견, 흉부 X-선 검사, 고해상도 흉부단층 촬영, 수분제한검사, 개흉 폐생검으로 확진된 흔치 않은 중추성 요붕증을 통반한 원발성 폐 조직구증 X를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• 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

• 대한임상독성학회지
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• 제3권2호
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• pp.103-106
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• 2005

BASTA is an herbicide which contains glufosinate ammonium as a main component with an anionic surfactant, polyoxyethylene alkylether sulfate, and nonselectively inhibits glutamine synthetase. It became a wildly used herbicide in Korea and its intoxication is now increasing. A 42-year old woman ingested about 300ml of BASTA in a suicide attempt. She showed unconsciousness and respiratory distress in the beginning, and later developed multiple generalized convulsions, low blood pressure, fever and diabetes insipidus. Although she became alert 12 days after the ingestion, she showed retrograde amnesia for a period of about recent 10 years. A neuropsychological test on day 22 revealed frontal lobe dysfunction, visual memory disturbance and slight decrease in visuospatial function. All these neurological abnormalities that might occur due to glufosinate ammonium were almost improved in the follow-up test performed a month later.

• 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.

• Clinical and Experimental Pediatrics
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• 제48권6호
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• pp.669-674
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• 2005

신성 요붕증은 항이뇨호르몬의 정상적 분비에도 불구하고, 신장의 집합관의 항이뇨호르몬에 대한 반응이 저하되어 요농축능에 이상이 초래되는 질환이다. 특히 선천성 신성 요붕증은 대게 반성 열성 유전 양식을 따르는 유전 질환으로 매우 드물어 소아에서는 간헐적 보고만 있어 왔다. 어린 소아에서는 증상이 비특이적일 수 있고, 임상적 진단도 쉽지 않은데, 최근에는 항이뇨 호르몬 수용체 유전자의 돌연변이들이 확인되어 유전자 검사로 확진이 가능하게 되었다. 기존의 보고들은 선천성 신성 요붕증이 진단된 환아들에 대한 이뇨제나 비스테로이드성 항염증제 등을 포함한 치료가 이루어진 증례보고이었으나 이들의 치료 후 장기적 추적 결과 보고가 극히 드물며, 이들 약제에 의한 치료 효과는 낮은 것으로 알려져 있다. 저자들은 극심한 이뇨로 인한 이차적 요로기관의 변형이 초래되었던 8세 소아에서 환아와 엄마의 말초 혈액 유전자 분석 검사상 Xq28 염색체 부위의 AVPR2 유전자의 돌연변이가 확인되었고 hydrochlorothiazide, indomethacin 및 amiloride 병합 치료 후 배뇨량은 하루 12리터에서 4리터로 감소하였고, 성장 발육도 정상이었으나 더 이상의 호전이 없고 일상 생활에 불편함이 지속되어 보조적 방광루 형성술을 시행받은 후, 증상 호전 및 심리적 안정을 얻었던 심한 선천성 신성 요붕증 1례의 5년간의 추적 관찰 결과를 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제53권8호
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• pp.809-813
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• 2010

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset age. BS type I is caused by loss-of-function mutations in the $SLC12A1$ gene and usually manifests as antenatal BS. This report concerns a male patient with compound heterozygous missense mutations on $SLC12A1$ (p.C436Y and p.L560P) and atypical clinical and laboratory features. The patient had low urinary sodium and chloride levels without definite metabolic alkalosis until the age of 32 months, which led to confusion between BS and nephrogenic diabetes insipidus (NDI). In addition, the clinical onset of the patient was far beyond the neonatal period. Genetic study eventually led to the diagnosis of BS type I. The low urinary sodium and chloride concentrations may be caused by secondary NDI, and the later onset may suggest the existence of a genotype-phenotype correlation. In summary, BS type I may have phenotype variability including low urine sodium and chloride levels and later onset. A definitive diagnosis can be confirmed by genetic testing.