Neonatal Bartter syndrome and unilateral ectopic renal cyst as new renal causes of hydrops fetalis: two case reports and review of the literature

Çetınkaya, Merih; Durmaz, Oğuzhan; Büyükkale, Gökhan; Özbek, Sibel; Açar, Deniz; Kiliçaslan, İşın; Kavuncuoğlu, Sultan

doi:10.3109/14767058.2013.783803

Cited by 5 publications

(4 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…For the included case series ( Supplementary Figure S2 ), the quality assessment of the included studies identified two studies [ 59 , 61 ] as high quality, six studies [ 58 , 62 , 63 , 64 , 65 , 66 ] as medium quality, and one study [ 60 ] as low quality. Only five [ 59 , 61 , 62 , 64 , 66 ] studies gave clear criteria for inclusion in the case series.…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Bartter Syndrome: A Systematic Review of Case Reports and Case Series

Qasba,

Bucharles,

Piccoli

et al. 2023

Medicina

View full text Add to dashboard Cite

Background and Objectives: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia. The clinical presentation of BS is heterogeneous, with a wide variety of genetic variants. The aim of this systematic review was to examine the available literature and provide an overview of the case reports and case series on BS. Materials and Methods: Case reports/series published from April 2012 to April 2022 were searched through Pubmed, JSTOR, Cochrane, ScienceDirect, and DOAJ. Subsequently, the information was extracted in order to characterize the clinical presentation, laboratory results, treatment options, and follow-up of the patients with BS. Results: Overall, 118 patients, 48 case reports, and 9 case series (n = 70) were identified. Out of these, the majority of patients were male (n = 68). A total of 21 patients were born from consanguineous marriages. Most cases were reported from Asia (73.72%) and Europe (15.25%). In total, 100 BS patients displayed the genetic variants, with most of these being reported as Type III (n = 59), followed by Type II (n = 19), Type I (n = 14), Type IV (n = 7), and only 1 as Type V. The most common symptoms included polyuria, polydipsia, vomiting, and dehydration. Some of the commonly used treatments were indomethacin, potassium chloride supplements, and spironolactone. The length of the follow-up time varied from 1 month to 14 years. Conclusions: Our systematic review was able to summarize the clinical characteristics, presentation, and treatment plans of BS patients. The findings from this review can be effectively applied in the diagnosis and patient management of individuals with BS, rendering it a valuable resource for nephrologists in their routine clinical practice.

show abstract

Section: Resultsmentioning

confidence: 99%

“…Only five [ 59 , 61 , 62 , 64 , 66 ] studies gave clear criteria for inclusion in the case series. The condition was not measured in a standard, reliable way for the included participants in two studies [ 60 , 63 ]. All of the studies used a valid method for the identification of the condition.…”

Section: Resultsmentioning

confidence: 99%

Bartter Syndrome: A Systematic Review of Case Reports and Case Series

Qasba,

Bucharles,

Piccoli

et al. 2023

Medicina

View full text Add to dashboard Cite

show abstract

“…Fraser syndrome may present with renal agenesis and NIHF . NIHF has been described in association with Bartter syndrome, in which renal cysts may be seen prenatally. Finally, enlarged, multicystic kidneys have been reported with NIHF in the setting of both Meckel Gruber syndrome and infantile polycystic kidney disease .…”

Section: Genetic Causes Of Nihf By Organ Systemmentioning

confidence: 99%

A system‐based approach to the genetic etiologies of non‐immune hydrops fetalis

et al. 2019

View full text Add to dashboard Cite

A wide spectrum of genetic causes may lead to nonimmune hydrops fetalis (NIHF), and a thorough phenotypic and genetic evaluation are essential to determine the underlying etiology, optimally manage these pregnancies, and inform discussions about anticipated prognosis. In this review, we outline the known genetic etiologies of NIHF by fetal organ system affected, and provide a systematic approach to the evaluation of NIHF. Some of the underlying genetic disorders are associated with characteristic phenotypic features that may be seen on prenatal ultrasound, such as hepatomegaly with lysosomal storage disorders, hyperechoic kidneys with congenital nephrosis, or pulmonary valve stenosis with RASopathies. However, this is not always the case, and the approach to evaluation must include prenatal ultrasound findings as well as genetic testing and many other factors. Genetic testing that has been utilized for NIHF ranges from standard chromosomal microarray or karyotype to gene panels and broad approaches such as whole exome sequencing. Family and obstetric history, as well as pathology examination, can yield additional clues that are helpful in establishing a diagnosis. A systematic approach to evaluation can guide a more targeted approach to genetic evaluation, diagnosis, and management of NIHF.

show abstract

“…Urorectal septum malformation sequence (URSMS) leading to meconium peritonitis and non-immune fetal hydrops was first reported in 2006 [166]. Subsequently multiple papers looking at the aetiology of all fetal hydrops cases attribute a small percentage (2-3%) to 'urogenital malformations', including prune-belly syndrome, renal agenesis, neonatal Bartter syndrome and cystic kidney disease [2,72,[167][168][169]. Still, non-immune fetal hydrops is an unusual presentation of urogenital tract malformations.…”

Section: Urogenital Malformationmentioning

confidence: 99%

Fetal hydrops – a review and a clinical approach to identifying the cause

Dempsey

Homfray

Simpson

et al. 2020

Expert Opinion on Orphan Drugs

View full text Add to dashboard Cite

• Fetal hydrops is the abnormal accumulation of fluid in two or more extravascular fetal compartments. • Fetal hydrops confers a high risk of morbidity and mortality. • Fetal hydrops can be divided into immune (largely materno-fetal alloimmunisation) and non-immune. • Non-immune fetal hydrops can be caused by a multitude of different causes including infection, congenital malformation, chromosome abnormalities and single-gene disorders. • The identification of fetal anaemia from the second trimester is crucial to guiding further investigations. • Many cases of fetal hydrops remain undiagnosed and we believe a significant proportion of these have underlying genetic lymphatic dysplasias. • As exome or whole genome sequencing becomes increasingly available, genetic testing will feature earlier in the diagnostic pathway.

show abstract

Neonatal Bartter syndrome and unilateral ectopic renal cyst as new renal causes of hydrops fetalis: two case reports and review of the literature

Cited by 5 publications

References 11 publications

Bartter Syndrome: A Systematic Review of Case Reports and Case Series

Bartter Syndrome: A Systematic Review of Case Reports and Case Series

A system‐based approach to the genetic etiologies of non‐immune hydrops fetalis

Fetal hydrops – a review and a clinical approach to identifying the cause

Contact Info

Product

Resources

About