Therefore, early diagnosis and intervention are important for preventing CNDI patients from complications, such as damage to urinary and nerve systems and developmental retardation.
The authors also thank Dr. Jing Zhang in the Department of MRI and Dr. Tingting Wu in the Department of Ultrasound in the Lanzhou University Second Hospital for their assistance in interpreting the MRI and ultrasound imaging. Springer Congenital nephrogenic diabetes insipidus (CNDI) is a rare disorder caused by mutations of the arginine vasopressin V2 receptor (AVPR2) or aquaporin 2 (AQP2) genes (1,2).
Genetic analysis of a congenital nephrogenic diabetes insipidus pedigree Chin Med J (Engl). In this study we reported a case of CNDI caused by a single nucleotide substitution (c.323C>T) in Of note, sequencing analysis found several mutations in the As aforementioned, CNDI patients are incapable of concentrating urine leading to discharge of large volume of unconcentrated urine, which may cause severe dehydration. Suspected mutations were confirmed by Sanger sequencing. Targets were enriched by NimbleGen Sequence Capture Human Exome 2.1M Array (Roche) and sequenced on HiSeq 2500 System (Illumina). Congenital nephrogenic diabetes insipidus in a baby girl. Peak urine output was 7mL/kg/hour.
Supplementary DW participated in the patient's clinical care and collected the data. doi: 10.1002/mgg3.568. For example, chemical chaperones or non-peptide agonists/antagonists can be used to rescue certain endoplasmic reticulum (ER)-retained mutants of plasma membrane protein AVPR2 (In summary, this study presents an autosomal recessive CNDI case that was caused by a C>T transition of All datasets generated for this study are included in the article/supplementary material.This study was approved by the Ethical Committee, Lanzhou University Second Hospital. Apparent growth retardation was noted at admission. X-linked forms of transmission (90%) are expressed in boys, from the … No other similar cases were reported in the parents' family.Physical examination at admission showed blood pressure of 95/65 mmHg, respiratory rate of 22 /min, heart rate of 92 /min, and the body temperature of 36.8°C. To determine the potential genetic cause of NDI, exome sequencing was ordered for the patient and his father (genetic test was declined by the patient's mother due to personal reasons). In addition, alternative therapies including 2 weeks treatment with nerve growth factor (9,000 U, once daily) and 1.5 months treatment with growth hormone (2 IU daily, subcutaneous injection before bed time) were given during the initial therapy. Epub 2016 Mar 2.Prog Mol Biol Transl Sci. As patients with this disorder are unable to concentrate urine effectively, polyuria with compensatory polydipsia, nocturia and enuresis are commonly observed. This review focuses on the current knowledge regarding the cell biological aspects of congenital X-linked, autosomal-recessive and autosomal-dominant NDI while specifically addressing the latest developments in the field. Initial sodium was 134 mEq/L with progressive increase to 160 mEq/L by the 9th day of life.
In addition, CNDI can also be readily differentiated from other types of diabetes insipidus, such as neurohypophyseal diabetes insipidus via genetic testing (Strategies for CNDI intervention and treatment include restricting sodium intake, supplying with sufficient liquids, correcting hypertonic state induced by hypernatremia and hyperchloremia using thiazide diuretics, and minimizing water discharge using indomethacin or other non-steroidal anti-inflammatory drugs (NSAIDs). 2014 Nov-Dec;71(6):332-338. doi: 10.1016/j.bmhimx.2015.01.004. XW analyzed the data and wrote the manuscript.
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