A 13-year-old boy was diagnosed as having primary nephrogenic diabetes insipidus, and symptoms developed at 3 years of age. Subsequently he developed bilateral hydronephrosis and a neurogenic bladder. His pedigree could be explored back 5 generations and represented an inheritance as an X-linked recessive transmission factor. He was treated with indomethacin 2 mg/kg/day plus chlorothiazide 500 mg/day and this new treatment showed a markedly decreased urine output and increased urine osmolarity. (Nephrogenic diabetes insipidus, Hydronephrosis, Indomethacin)
Adolescent ; Bladder, Neurogenic/etiology ; Chlorothiazide/therapeutic use ; Diabetes Insipidus/complications ; Diabetes Insipidus/congenital* ; Diabetes Insipidus/drug therapy ; Diabetes Insipidus/genetics ; Drug Therapy, Combination ; Human ; Hydronephrosis/etiology* ; Indomethacin/therapeutic use* ; Male

Nephrogenic diabetes insipidus is a rare congenital disorder in which the kidney does not respond to vasopressin. Urinary incontinence is rare in this disorder. We report a case of nephrogenic diabetes insipidus associated with urinary incontinence in a 11 year old male, who stays completely dry with double voiding and administration of thiazide diuretics in combination with low salt diet.
Child ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Diabetes Insipidus ; Diabetes Insipidus, Nephrogenic* ; Diet ; Humans ; Kidney ; Male ; Sodium Chloride Symporter Inhibitors ; Urinary Incontinence* ; Vasopressins

OBJECTIVETo detect potential mutation in a pedigree affected with congenital nephrogenic diabetes insipidus (NDI).

METHODSClinical data of a male patient affected with NDI was collected. Genomic DNA was extracted from peripheral blood samples from the patient and five family members. The whole coding region of the arginine vasopressin receptor 2 (AVPR2) gene was amplified by PCR and directly sequenced.

RESULTSThe patient presented polyuria and polydipsia postnatally. Computerized tomography revealed bilateral hydronephrosis and hydroureter. The patient was responsive to hydrochlorothiazide but not to desmopressin. DNA analysis identified a hemizygous missence mutation c.295 T>C in exon 2 of the AVPR2 gene in the proband. His mother and grandmother were both heterozygous for the same mutation.

CONCLUSIONThe congenital NDI in the patient was probably due to mutation of the AVPR2 gene.

Adolescent ; Base Sequence ; DNA Mutational Analysis ; Diabetes Insipidus, Nephrogenic ; congenital ; genetics ; Exons ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Mutation ; Pedigree ; Receptors, Vasopressin ; genetics

BACKGROUND AND OBJECTIVES: Transseptal TSA (transsphenoidal approach) has advantages of wide exposure, good operative view, and use of two hands, but has disadvantages of external nasal scar, possibility of external nasal deformity and severe nasal pain. And endoscopic TSA can reduce nasal morbidity, but operator can't use two hands with the endoscope and it also has disadvantages of narrow operative field. Endonasal TSA is a new approach technique taking the advantages of transseptal and endoscopic TSA. SUBJECTS AND METHOD: We reviewed 112 patients who had been operated with this method from Mar, 2001 to Sep, 2003. Details of surgical technique of this approach are presented. We investigated the operative time, hospital periods, and complications. RESULTS: The mean operative time was 95 minutes. Nasal packings were removed on the first postoperative day in 106 cases, and on second postoperative days in 6 cases. The mean postoperative hospital stay was 3.2 days. During the follow-up periods (6-24 months, mean 13.5 months), there were complications of olfactory disturbance (4 cases), nasal septal deviation (2 cases), epistaxis (1 case), nasal septal perforation (1 case), CSF leakage (1 case), hypopituitarism (3 cases), and diabetes insipidus (4 cases). Meningitis, external nasal deformity, external scar, paresthesia or sinusitis were not noticed. CONCLUSION: Using endonasal TSA, we could operate easily with two hands, obtaining a good operative view and short operation time. The technique presented minimal nasal morbidity, a short hospital stay and low incidence of complications.
Cicatrix ; Congenital Abnormalities ; Diabetes Insipidus ; Endoscopes ; Epistaxis ; Follow-Up Studies ; Hand ; Humans ; Hypopituitarism ; Incidence ; Length of Stay ; Meningitis ; Nasal Septal Perforation ; Operative Time ; Paresthesia ; Pituitary Neoplasms ; Sinusitis

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. There are three inheritance patterns of CNDI: the X-linked recessive form associated with vasopressin V2 receptor gene mutations, and the autosomal recessive and dominant forms associated with aquaporin-2 gene (AQP2) mutations. The evaluation for polyuria and polydipsia in a one-month-old Korean girl revealed no response to vasopressin and confirmed the diagnosis of CNDI. Because the child was female without family history of CNDI, her disease was thought to be an autosomal recessive form. We analyzed the AQP2 gene and detected a compound heterozygous missense point mutation: (70)Ala (GCC) to Asp (GAC) in exon 1 inherited from her father and (187)Arg (CGC) to His (CAC) in exon 3 inherited from her mother. The first mutation is located within the first NPA motif of the AQP2 molecule and the second one right after the second NPA motif. This is the first report to characterize AQP2 mutations in Korean patients with autosomal recessive CNDI, and expands the spectrum of AQP2 mutations by reporting two novel mutation, (70)Ala (GCC) to Asp (GAC) and (187)Arg (CGC) to His (CAC).
Aquaporin 2/*genetics ; Base Sequence ; Child, Preschool ; DNA/genetics ; DNA Mutational Analysis ; Diabetes Insipidus, Nephrogenic/congenital/*genetics ; Female ; Genes, Recessive ; Heterozygote ; Humans ; Infant ; Male ; Mutation, Missense ; Point Mutation ; Research Support, Non-U.S. Gov't

BACKGROUND: Vasodilatory shock after cardiac surgery may result from the vasopressin deficiency following cardiopulmonary bypass and sepsis, which did not respond to usual intravenous inotropes. In contrast to the adult patients, the effectiveness of vasopressin for vasodilatory shock in children has not been known well and so we reviewed our experience of vasopressin therapy in the small babies with a cardiac disease. MATERIAL AND METHOD: Between February and August 2003, intravenous vasopressin was administrated in 6 patients for vasodilatory shock despite being supported on intravenous inotropes after cardiac surgery. Median age at operation was 25 days old (ranges; 2~41 days) and median body weight was 2,870 grams (ranges; 900~3,530 grams). Preoperative diagnoses were complete transposition of the great arteries in 2 patients, hypoplastic left heart syndrome in 1, Fallot type double-outlet right ventricle in 1, aortic coarctation with severe atrioventricular valve regurgitation in 1, and total anomalous pulmonary venous return in 1. Total repair and palliative repair were undertaken in each 3 patient. RESULT: Most patients showed vasodilatory shock not responding to the inotropes and required the vasopressin therapy within 24 hours after cardiac surgery and its readministration for septic shock. The dosing range for vasopressin was 0.0002~0.008 unit/kg/minute with a median total time of its administration of 59 hours (ranges; 26~140 hours). Systolic blood pressure before, 1 hour, and 6 hours after its administration were 42.7+/-7.4 mmHg, 53.7+/-11.4 mmHg, and 56.3+/-13.4 mmHg, respectively, which shows a significant increase in systolic blood pressure (systolic pressure 1hour and 6 hours after the administration compared to before the administration; p=0.042 in all). Inotropic indexes before, 6 hour, and 12 hours after its administration were 32.3+/-7.2, 21.0+/-8.4, and 21.2+/-8.9, respectively, which reveals a significant decrease in inotropic index (inotropic indexes 6 hour and 12 hours after the administration compared to before the administration; p=0.027 in all). Significant metabolic acidosis and decreased urine output related to systemic hypoperfusion were not found after vasopressin administration. CONCLUSION: In young children suffering from vasodilatory shock not responding to common inotropes despite normal ventricular contractility, intravenous vasopressin reveals to be an effective vasoconstrictor to increase systolic blood pressure and to mitigate the complications related to higher doses of inotropes.
Acidosis ; Adult ; Aortic Coarctation ; Arteries ; Blood Pressure ; Body Weight ; Cardiopulmonary Bypass ; Child ; Diabetes Insipidus, Neurogenic ; Diagnosis ; Double Outlet Right Ventricle ; Heart Defects, Congenital* ; Heart Diseases ; Humans ; Hypoplastic Left Heart Syndrome ; Postoperative Care ; Scimitar Syndrome ; Sepsis ; Shock* ; Shock, Septic ; Thoracic Surgery ; Vasodilation ; Vasopressins*