• 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.

• Childhood Kidney Diseases
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• v.16 no.1
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• pp.1-8
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• 2012

Nocturnal polyuria is one of the main pathogenic mechanisms of enuresis. Disturbance of circadian rhythm of antidiuretic hormone (ADH or AVP), hypercalciuria, and/or solute diuresis are considered to cause nocturnal polyuria, which in turn causes enuresis in patients with relatively small bladder capacity and high threshold for awakening. Evaluation of these factors would guide the therapeutic approach for enuresis.

• Clinical and Experimental Pediatrics
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• v.45 no.7
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• pp.902-905
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• 2002

The most common form of genetic nephrogenic diabetes insipidus(NDI), a rare inherited disorder, is congenital and is transmitted in an X-linked recessive mode. It is refractory to the antidiuretic effect of normal to moderately increased levels of plasma arginine vasopressin(AVP) but, in some cases, may respond to high levels of the hormone or its analogue, deamino-D-arginine vasopressin(DDAVP). X-linked congenital NDI has now been linked to over 128 different mutations in diverse coding regions of the AVP receptor 2(AVPR2) gene. The functional effects of these mutations vary from complete loss of responsiveness to a simple shift to the right in the dose response curve. We report a case of congenital partial NDI, with transversion of A to G at codon 280 of the AVPR2 gene, resulting in a subsequent change of amino acid from tyrosine to cysteine, and that has been effective with hydrochlorothiazide and high dose of DDAVP.

• Journal of Gastric Cancer
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• v.6 no.3
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• pp.198-201
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• 2006

Hyponatremia is a dangerous electrolyte disturbance in patients on chemotherapy and may cause sudden death if not detected early. SIADH (syndrome of inappropriate antidiuretic hormone) is one of the known causes of hyponatremia in patients undergoing chemotherapy. Few chemotherapeutic agents, however, are reported to cause SIADH. The current study reports that SIADH developed in a 55 year old woman on S-1 ($80\;mg/m^{2}$) and cisplatin ($60\;mg/m^{2}$) chemotherapy for the peritoneal metastasis of gastric cancer. The patient underwent a total gastrectomy, a splenectomy, and a segmental resection of the transverse colon for gastric cancer. She had used thiazide and ${\beta}-blocker$ to treat hyperiension for 12 years. She admitted to our hospital with complaining of general weakness, dysarthria, loss of appetite, and urinary discomfort. The serum level of sodium and potassium were 94 mEq/L and 2.2 mEq/L respectively. The hyponatremia completely resolved uneventfully after 3% saline infusion, which led to normalized electrolyte balance. The patient was discharged on the 13th hospital day.

• Clinical and Experimental Pediatrics
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• v.48 no.6
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• pp.669-674
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• 2005

Nephrogenic diabetes insipidus (NDI) is a disorder in which the secretion of antidiuretic hormone is normal, but the response of the renal collecting tubules to vasopressin is impaired. Compared with acquired NDI (a-NDI), which is secondary to chronic bilateral incomplete urinary tract obstruction with hydronephrosis, congenital NDI (c-NDI) is a very rare heritable disorder that usually follows the X- linked recessive pattern. Clinical symptoms of c-NDI can be non specific, and often the disease ultimately results in failure to thrive, or mental retardation. Recently, the diagnosis can be confirmed by direct sequencing analysis of the peripheral blood specimens. The long-term results of treatment for c-NDI are not satisfactory. Reports on the follow up of c-NDI cases are rare and there is no report on the cases treated with combinations of three drugs. We report herein a case of severe c-NDI in an 8 year-old-boy with a severely dysconfigurated urinary tract system. The patient and his mother showed a frameshift mutation on the AVPR2 gene on chromosome Xq28:.847_851delTGCTG (p.C283fsX90). The patient showed normal growth and development by treatment with combinations of hydrochlorothiazide ($65mg/m^2$), amiloride (0.3 mg/kg/d) and indomethacin ($100mg/m^2$), yet after five years he needed adjuvant cystostomy to relieve him from the residual symptoms of urgency with polyuria.

• Journal of Yeungnam Medical Science
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• v.8 no.2
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• pp.227-234
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• 1991

The syndrome of inappropriate ADH secretion is a disorder characterized by hyponatremia which results from water retention attributable to ADH release. The hallmark of SIADH is hyponatremia due to water retention, in the presence of urinary osmolality above plasma osmolality. The SIADH was initially described by Schwartz et al(1957). This syndrome, first recoginzed in patients with bronchogenic carcinoma, has now been observed in a variety of other illnesses. Recently, we encountered a 59 year-old female with small cell lung cancer, also she had SIADH. Thus, we present a case and review the literature on the subject.

• Journal of Yeungnam Medical Science
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• v.6 no.1
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• pp.205-211
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• 1989

We report a case of acute intermittent porphyria presenting with variable symptoms and signs such as hypertention, polyneuropathy, syndrome of inappropriate secretion of antidiuretic hormone and cerebral infarction. A 47 year-old female patient entered hospital with abdominal pain followed by generalized seizure. She was diagnosed to have acute intermittent porphyria in consequence of Watson-Schwartz test and ${\delta}$-ALA in 24 hours urine, but died of respiratory failure.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.15 no.1
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• pp.7-10
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• 1993

The final purpose of oral & maxillofacial trauma is functional & esthetic repair. Nowadays, severe trauma involving with the head & neck trauma is increasing. After these trauma occurs, the patients develop similar signs & symptoms with the postoperative healing period, as like thurst, hypertention, excitability, disorientation, convulsion, et al. Because SIADH which is one of important complications after head trauma, shows similar clinical features after operation, we should pay attention to detect it. SIADH shows characteristic laboratory findings, as like hyponatremia, urine hyperosmolality, increased plasma ADH level, continued renal excretion of sodium, so we can easily distinguish it from postoperative conditions. This paper reports two cases, one was the case of the mandibular fracture and cerebral contusion, which included permanent SIADH. The other was the case of the multiple teeth injury and cerebral contusion, which was transient SIADH. We treated them with water restriction, hypertonic saline, and diuretics.

• Tuberculosis and Respiratory Diseases
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• v.61 no.6
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• pp.591-594
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• 2006

We report a case of pulmonary adenocarcinoma complicated by the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) following adjuvant chemotherapy. A 51-year-old woman with stage IIIA adenocarcinoma received left lower lobe lobectomy in July, 2006. And then combination chemotherapy with paclitaxel and cisplatin was given to the patient. In five days after completion of second cycle of the chemotherapy, she visited emergency room because of general weakness and seizure. Her brain MRI was shown to be no evidence of brain metastasis. Serum sodium, urine and plasma osmolarities were 117mEq/L, 589 and 244mOsm/kg, respectively. She was improved with fluid restriction. Although occurrence of SIADH following chemotherapy is rare, physician should give an attention the potential for development of SIADH in the course of chemotherapyin non-small cell lung cancer patient.

• The Korean Journal of Physiology
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• v.21 no.2
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• pp.297-304
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• 1987

A study was carried out to find out the relationship between arginine vasopressin (AVP) release and plasma osmolality in 15 young men (age: 21.4 yr). After an overnight fasting, wale. (20 ml/kg) was imbibed, and venous blood and urine samples were collected every 30 min for 90 min. then 5% saline was infused (0.06 ml/min/kg) for 120 min. AVP was extracted on Sep-Pak column and measured by radioimmunoassay. Under basal condition, plasma osmolality (pOsm), AVP (pAVP) and aldosterone (pAldo) levels were 286.5 mOsm/kg, 1.1 pg/ml, and 140 pg/ml, respectively. pAVP became undetectable during maximum water diuresis, and increased in response to hypertonic saline infusion. pAVP level began to increase when pOsm was above 280 mOsm/kg. Changes in urinary AVP excretion (uAVP) was parallel to pAVP levels. The fall in pAVP was followed by a decrease in uAVP, uOsm and an increase in free water clearance, while the later rise in pAVP was followed by an increase in uAVP, uOsm and a decrease in free water clearance. When pooling all data together, relationships between pAVP and pOsm, and uAVP and uOsm were best expressed by an exponential relationship (r=0.78, 0.86, respectively). pAldo level decreased to 71 pg/ml after water ingestion, and decreased further to 30 pg/ml 2 hr after 5% saline infusion. Even at the same pNa, pAldo level during dehydration state was significantly higher than during hydration state. Negative exponential relation (r=-0.59) was observed between pAldo and pNa. Response to change in body fluid volume was greater in aldosterone than in AVP release.