Nephrogenic Diabetes Insipidus

Kavanagh, Catherine; Uy, Natalie

doi:10.1016/j.pcl.2018.09.006

Cited by 55 publications

(52 citation statements)

References 23 publications

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“…Congenital nephrogenic DI is difficult to treat; the main therapeutic goal is adequate hydration with frequent water supply per oral or hypotonic saline (0.22%) 5,14) . Normal sa line usually aggravates hypernatremia in congenital ne phrogenic DI, except in case of hypovolemic shock.…”

Section: Discussionmentioning

confidence: 99%

“…Normal sa line usually aggravates hypernatremia in congenital ne phrogenic DI, except in case of hypovolemic shock. A low solute diet with low protein and sodium is recommended to decrease the excretion of urinary metabolite and sodium 14,15) . In this case, aggravation of vomiting after supply of a highcaloric formula (Infantrini ® , Nutricia, Zoetermeer, Netherlands) might reflect a burden of hypernatremia or hyperosmolarity indirectly.…”

Section: Discussionmentioning

confidence: 99%

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A Case of Nephrogenic Diabetes Insipidus with a Rare X-linked Recessive Mutation in an Infant with Developmental and Growth Retardation Tracked by the Korean National Health Screening Program

et al. 2020

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A Case of Nephrogenic Diabetes Insipidus with a Rare X-linked Recessive Mutation in an Infant with Developmental and Growth Retardation Tracked by the Korean National Health Screening Program

et al. 2020

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“…Both disease states relate directly to the urine composition. NDI is characterized by the inability to concentrate the urine efficiently, leading to polyuria (excessive urine production) and polydipsia (excessive thirst) , while dRTA is characterized by defective renal acid–base regulation and as a result less acidic urine . The second group considered diseases which possess no direct connection to the urine formation, namely, asthma and infection with Aspergillus fumigatus causing invasive pulmonary aspergillosis.…”

Section: Introductionmentioning

confidence: 99%

Towards Raman spectroscopy of urine as screening tool

Žukovskaja

Ryabchykov

Straßburger

et al. 2019

Journal of Biophotonics

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For the screening purposes urine is an especially attractive biofluid, since it offers easy and noninvasive sample collection and provides a snapshot of the whole metabolic status of the organism, which may change under different pathological conditions. Raman spectroscopy (RS) has the potential to monitor these changes and utilize them for disease diagnostics. The current study utilizes mouse models aiming to compare the feasibility of the urine based RS combined with chemometrics for diagnosing kidney diseases directly influencing urine composition and respiratory tract diseases having no direct connection to urine formation. The diagnostic models for included diseases were built using principal component analysis with linear discriminant analysis and validated with a leave‐one‐mouse‐out cross‐validation approach. Considering kidney disorders, the accuracy of 100% was obtained in discrimination between sick and healthy mice, as well as between two different kidney diseases. For asthma and invasive pulmonary aspergillosis achieved accuracies were noticeably lower, being, respectively, 77.27% and 78.57%. In conclusion, our results suggest that RS of urine samples not only provides a solution for a rapid, sensitive and noninvasive diagnosis of kidney disorders, but also holds some promises for the screening of nonurinary tract diseases.

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“…There are various acquired causes of NDI, such as antimicrobials or electrolyte abnormalities (hypercalcemia, hypercalciuria, or hypokalemia). 12,13 Several animal models have explored the long-term effects of potassium deprivation (days to weeks) resulting in NDI, 14 while others have demonstrated that the immediate urinary concentrating defects induced by hypokalemiacan occur within 12-24 h. 15 Our patient developed symptoms of DI on day 35 with a normal While the mechanism of TMZ-induced CDI has not been elucidated, it has been postulated that TMZ may affect antidiuretic hormone (ADH) production, or interfere with ADH storage and/or secretion from the neurohypophysis. 4 In vitro studies have demonstrated that TMZ causes actin depolymerization in human glioma cells.…”

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confidence: 99%