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J Pediatr Genet 2020; 09(04): 296-300
DOI: 10.1055/s-0040-1713157
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Severe Polyhydramnios with Consistent Fetal Full Bladder: A Novel Sign of Antenatal Bartter's Disease

Seema Thakur 
1   Department of Genetic and Fetal Diagnosis, Fortis Hospital, New Delhi, India
,
Manisha Kumar
2   Department of Medical Genetics, Department of Obstetrics and Gynaecology, Lady Hardinge Medical College, New Delhi, India
,
Supriya Malhotra
3   Department of Obstetrics and Gynaecology, Fortis La Femme, New Delhi, India
,
Preeti Paliwal
4   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Vandana Thareja
5   Department of Radiology, Vandana Diagnostics, Malviya Nagar, Delhi, India
,
Gaurika Sahi
6   Department of Radiology, Fortis La Femme, New Delhi, India
› Author Affiliations Funding None.
Further Information

Publication History

29 January 2020

07 May 2020

Publication Date:
08 July 2020 (online)

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Abstract

Bartter's disease, an inherited renal tubular disorder is due to a defect in ion transport across the ascending limb of the loop of Henle leading to failure of the ability of kidneys to concentrate urine and hence polyuria. We present three fetuses of mothers with severe polyhydramnios with normal maternal blood sugar profile, routine Toxoplasma, Rubella, Cytomegalovirus, Herpes (TORCH) serology. The ultrasound showed no structural anomaly in the fetus, but consistent overdistended bladder with severe polyhydramnios was observed without any evidence of obstructive uropathy. The biochemical test on amniotic fluid was suggestive of Bartter's disease in case 1 and borderline in case 2, and next-generation sequencing confirmed a mutation of KCNJ1 associated with Bartter's disease Type II in case 1 and a mutation in SLC21A1 in case 2. Amniotic fluid biochemistry was inconclusive in case 3. A consistent full bladder with severe polyhydramnios with onset around 24 to 25 weeks was a novel finding which was observed due to fetal polyuria and can be used as a clue to investigate cases with severe polyhydramnios with no structural anomaly. Antenatal diagnosis will help in the proper management of child and genetic counseling for the next pregnancy.

Keywords

polyhydramnios - overdistended bladder - Bartter's disease - SLC21A1 - KCNJ1

Informed Consent

Consent was taken for procedures during pregnancy.


Authors' Contribution

S.T. observed fetuses 2 and 3 and examined the novel finding of overdistended bladder. M.K. observed fetus 1 and suspected antenatal barter syndrome. S.M took active part in managing fetus 2. G.S. performed radiology for fetus 2. V.T. performed radiology for fetus 3. P.P. contributed in writing the manuscript.


 

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