P95 A rare cause for failure to thrive: nephrogenic diabetes insipidus

2017 ◽  
Author(s):  
Ramona Stroescu ◽  
Mihai Gafencu ◽  
Adela Chiriţ&acaron; ◽  
Raluca Isac ◽  
Gabriela Doroş
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Failure To Thrive

scholarly journals A Novel Mutation in the AVPR2 Gene in a Palestinian Family with Nephrogenic Diabetes Insipidus

2017 ◽  
Vol 07 (01) ◽  
pp. e1-e3
Author(s):  
Abdulsalam Abu-Libdeh ◽  
Isaiah Wexler ◽  
Imad Dweikat ◽  
David Zangen ◽  
Bassam Abu-Libdeh
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutation ◽  
Collecting Duct ◽  
Failure To Thrive ◽  
Male Infant ◽  
Gene Encoding ◽  
Exon 2 ◽  
Recessive Form ◽  
V2 Vasopressin Receptor

AbstractNephrogenic diabetes insipidus (NDI) is a urinary concentrating defect resulting from resistance of the collecting duct to the antidiuretic action of vasopressin (AVP). The X-linked recessive form is the most frequent genetic cause of inherited NDI and can be caused by mutations in the gene encoding the V2 vasopressin receptor (AVPR2). A Palestinian male infant presented in the neonatal period with failure to thrive, vomiting, irritability, fever, and polyuria, and had biochemical findings consistent with NDI. The diagnosis of NDI was established based on the clinical picture, absent response to desmopressin, and a similarly affected elder brother. Sequencing of the AVPR2 gene for the patient and his affected brother revealed a novel missense mutation with replacement of G by A in codon 82 located in exon 2 (TGC → TAC), causing a cysteine to tyrosine substitution (C82Y). Testing of the mother showed that she was the carrier of that mutation. This is the identified AVPR2 mutation in a Palestinian family. Knowledge of these mutations will allow genetic counseling and early diagnosis of affected males.

scholarly journals Hypertensive urgency in nephrogenic diabetes insipidus with concomitant Hinman syndrome

2019 ◽  
Vol 12 (7) ◽  
pp. e229095
Author(s):  
Yu Guang Tan ◽  
Daniel Wei Keong Chan ◽  
Fabian Kok Peng Yap ◽  
Te-Lu Yap
Keyword(s):  
Renal Impairment ◽  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Failure To Thrive ◽  
Age Group ◽  
Urinary System ◽  
Hypertensive Urgency ◽  
Anatomical Changes ◽  
Hinman Syndrome ◽  
Concentrate Urine

Diabetes insipidus is a syndrome characterised by the inability to conserve water or concentrate urine, leading to excessive excretion of urine. In congenital nephrogenic diabetes insipidus (CNDI), common presentations include failure to thrive, polydipsia, polyuria and dehydration. The long trajectory of the disease, coupled with psycho-behavioural changes as a child grows, can precipitate a period of non-adherence despite initial optimal control, especially in the adolescent age group. Social inconvenience of repeated voiding and nocturnal disturbances can lead to adapted urine holding behaviour, also known as non-neurogenic neurogenic bladder (Hinman syndrome). Anatomical changes in the urinary system, such as bladder trabeculation and hydroureteronephrosis, can subsequently give rise to functional renal impairment. We present a case of CNDI with concomitant Hinman syndrome, resulting in acute renal impairment and hypertensive emergency. We aim to raise awareness of the association between these two entities.

Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families

2019 ◽  
Vol 32 (8) ◽  
pp. 915-920
Author(s):  
Mei Tik Leung ◽  
Jacqueline K.K. Sit ◽  
Hoi Ning Cheung ◽  
Yan Ping Iu ◽  
Winnie K.Y. Chan ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Failure To Thrive ◽  
Index Patient ◽  
Chinese Family ◽  
Molecular Testing ◽  
Carrier Status ◽  
Young Infants ◽  
Collecting Tubules

Abstract Nephrogenic diabetes insipidus (NDI) is a rare disorder of the renal collecting tubules, characterized by an inability to concentrate urine due to an impaired response to arginine vasopressin (AVP), resulting in dilute urine and polyuria. Causes of NDI are heterogeneous and diagnosing congenital NDI (cNDI) in young infants is clinically challenging, as typical symptoms are often unappreciated or inconspicuous. Instead, young infants may present with non-specific signs such as vomiting, poor feeding, failure to thrive, unexplained fevers, irritability, constipation or diarrhea. We report a 37-day-old infant who presented with polyuria and severe hypernatremic dehydration that was unresponsive to vasopressin. The patient was treated with amiloride, indomethacin and hydrochlorothiazide. Genetic analysis revealed a novel contiguous deletion involving the entire AVPR2 gene and the last exon of the adjacent ARHGAP4 gene. A study of the family confirmed the carrier status in the mother. This case illustrates the importance of molecular testing in confirming the diagnosis in the index patient, as well as in identifying asymptomatic at-risk female carriers so that appropriate genetic counselling can be given for reproductive planning. All pediatric patients with suspected cNDI should undergo genetic analysis for a definitive diagnosis.

scholarly journals Clinical Presentation and Follow-Up of 30 Patients with Congenital Nephrogenic Diabetes Insipidus

1999 ◽  
Vol 10 (9) ◽  
pp. 1958-1964
Author(s):  
ANGENITA F. VAN LIEBURG ◽  
NINE V. A. M. KNOERS ◽  
LEO A. H. MONNENS
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Clinical Presentation ◽  
Case Reports ◽  
Failure To Thrive ◽  
Study Data ◽  
Minor Trauma ◽  
Urine Retention ◽  
Congenital Nephrogenic Diabetes Insipidus

Abstract. Congenital nephrogenic diabetes insipidus is characterized by insensitivity of the distal nephron to arginine vasopressin. Clinical knowledge of this disease is based largely on case reports. For this study, data were collected on clinical presentation and during long-term follow-up of 30 male patients with congenital nephrogenic diabetes insipidus. The majority of patients (87%) were diagnosed within the first 2.5 yr of life. Main symptoms at clinical presentation were vomiting and anorexia, failure to thrive, fever, and constipation. Three older patients were diagnosed as a result of events not directly related to the disease. Except for a possibly milder phenotype in patients with a G185C mutation, no clear relationship between clinical and genetic data could be found. Most patients were on hydrochlorothiazide-amiloride treatment without significant side effects. Two patients suffered from severe hydronephrosis with a small rupture of the urinary tract after a minor trauma, and two patients experienced episodes of acute urine retention. Height SD scores for age remained below the 50th percentile in the majority of patients, whereas weight for height SD scores showed a catch-up after several years of underweight.

scholarly journals Nephrogenic Diabetes Insipidus - A Rare Report of Two Affected Sibling

2018 ◽  
Vol 41 (3) ◽  
pp. 193-195
Author(s):  
Rumana Riaaz ◽  
Mahbub Mutanabbi ◽  
Kohinoor Jahan Shamaly ◽  
CA Kawser
Keyword(s):  
Child Health ◽  
Diabetes Insipidus ◽  
Antidiuretic Hormone ◽  
Nephrogenic Diabetes Insipidus ◽  
Water Deprivation ◽  
Failure To Thrive ◽  
Urine Osmolality ◽  
Affected Sibling ◽  
Before And After ◽  
Rare Report

Nephrogenic Diabetes Insipidus (NDI) is a type of Diabetes Insipidus (DI) where distal nephrons are unresponsive to antidiuretic hormone resulting in polyuria and polydipsia. NDI can be congenital or acquired. There are very few cases of congenital NDI, more in sibs. Here we report two sibs affected with congenital NDI. Both of them presented with polyuria, polydipsia and failure to thrive since early infancy. In both cases, water deprivation tests and urine osmolality were done before and after DDAVP that suggested NDI and the acquired causes has been excluded. Both of them were treated with oral Hydrochlorothiazide and improved.Bangladesh J Child Health 2017; VOL 41 (3) :193-195

scholarly journals Nephrogenic Diabetes Insipidus is a Rare Complication of Chronic Kidney Disease - A Case Report

2013 ◽  
Vol 37 (1) ◽  
pp. 41-44
Author(s):  
Tahmina Jesmin ◽  
Md Habibur Rahman ◽  
Goalm Muinuddin ◽  
Afroza Begum ◽  
Ranjit Ranjan Roy ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Rare Complication ◽  
Plasma Osmolality ◽  
Failure To Thrive ◽  
Urine Osmolality ◽  
Unexplained Fever ◽  
Medical University

Nephrogenic Diabetes Insipidus (NDI) may occur as a complication of chronic kidney disease (CKD). The incidence of NDI is very rare. So recognition of this potential complication is very important. In our country, this rare complication is not yet reported. So, to make awareness among the paediatricians, we report a case of NDI as a rare complication of CKD. A 4-year old boy was admitted in the Department of Paediatric Nephrology, Bangabandhu Sheikh Mujib Medical University (BSMMU) with the complaints of failure to thrive, refusal to feed, nausea and vomiting since 18- months of his age. For the last six months, he had also complaints of polyuria and polydipsia. In addition to this, he developed muscle pain, constipation, bowing of leg and occasional unexplained fever. He was moderately pale with deep sighing respiration and his blood pressure was above 95th centile for age and sex. His creatinine level was high with low TCO2 and calcium level. His plasma osmolality was very high while urine osmolality was inappropriately low which did not increase after desmopressin (nasal spray) administration. Initial treatment with Indomethacin was ineffective while the combination of hydrochlorothiazide and Indomethacin was effective and well tolerated. DOI: http://dx.doi.org/10.3329/bjch.v37i1.15350 BANGLADESH J CHILD HEALTH 2013; VOL 37 (1) : 41-44

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