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

2020 ◽  
Vol 09 (04) ◽  
pp. 296-300
Author(s):  
Seema Thakur ◽  
Manisha Kumar ◽  
Supriya Malhotra ◽  
Preeti Paliwal ◽  
Vandana Thareja ◽  
...  
Keyword(s):  
Amniotic Fluid ◽  
Obstructive Uropathy ◽  
Maternal Blood ◽  
Structural Anomaly ◽  
Full Bladder ◽  
Renal Tubular Disorder ◽  
Concentrate Urine ◽  
Sugar Profile ◽  
Renal Tubular ◽  
Generation Sequencing

AbstractBartter'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.

scholarly journals Gitelman syndrome and ectopic calcification in the retina and joints

2021 ◽  
Author(s):  
Yeji Ham ◽  
Heather Mack ◽  
Deb Colville ◽  
Philip Harraka ◽  
B Biomed ◽  
...  
Keyword(s):  
Calcium Pyrophosphate ◽  
Bartter Syndrome ◽  
Gitelman Syndrome ◽  
Ectopic Calcification ◽  
Aggressive Management ◽  
Renal Tubular Disorder ◽  
Rate Of Progression ◽  
Renal Tubular ◽  
Retinal Photography

ABSTRACT Gitelman syndrome is a rare inherited renal tubular disorder with features that resemble thiazide use, including a hypokalemic metabolic alkalosis, hypomagnesemia, hypocalciuria, a low or normal blood pressure, and hyperreninemia and hyperaldosteronism. Treatment is primarily correction of the K and Mg levels. The diagnosis is confirmed with genetic testing but Gitelman syndrome is often not suspected. However the association with ectopic calcification in the retina, blood vessels and chondrocalcinosis in the joints is a useful pointer to this diagnosis. Bilateral symmetrical whitish deposits of calcium pyrophosphate are visible superotemporally on ophthalmoscopy and retinal photography but are actually located beneath the retina in the sclerochoroid. Optical coherence tomography is even more sensitive for their detection. These deposits increase in size with time, but the rate of progression slows with long-term correction of the hypomagnesemia. Calcification may be complicated by atrophy of the overlying retina and visual loss. The deposits often correlate with ectopic calcification in the aorta, coronary and cerebral vessels. Chondrocalcinosis occurs in the large joints such as the knees. Ectopic calcification in Gitelman syndrome indicates the need for more aggressive management of Ca and Mg levels. Calcification is much less common in Bartter syndrome which itself is rarer and associated less often with hypomagnesemia.

scholarly journals Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report

2021 ◽  
Vol 9 ◽  
Author(s):  
Martin Bezdíčka ◽  
Dana Zemková ◽  
Sylva Skálová ◽  
Eva Hovorková ◽  
Miroslav Podhola ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Kidney Development ◽  
Kidney Biopsy ◽  
Intraflagellar Transport ◽  
X Ray ◽  
Heterozygous Variant ◽  
Renal Tubular ◽  
Nephrotic Range Proteinuria ◽  
Generation Sequencing

Monogenic nephrotic syndrome (NS) is associated with a resistance to initial glucocorticoid therapy and causative variants, which may be found in several genes influencing podocyte stability and kidney development. The TTC21B gene, which encodes the retrograde intraflagellar transport protein IFT139, is found mostly in association with ciliopathies in humans. The role of this protein in podocyte cytoskeleton stability was confirmed later and the mutated TTC21B also may be associated with proteinuric diseases, such as nephrotic syndrome. Our patient manifested as an infant with brachydactyly, nephrotic-range proteinuria, and renal tubular acidosis, and a kidney biopsy revealed focal segmental glomerulosclerosis (FSGS). Multiple phalangeal cone-shaped epiphyses of the hand were seen on X-ray. Next-generation sequencing revealed the well-described p.Pro209Leu heterozygous variant and a novel heterozygous p.Cys14Arg variant in the TTC21B gene. Our finding confirmed that the causative variants in the TTC21B gene may contribute to a spectrum of clinical features, such as glomerular proteinuric disease with tubulointerstitial involvement and skeletal abnormalities.

Pregnancy exposure to quetiapine – Therapeutic drug monitoring in maternal blood, amniotic fluid and cord blood and obstetrical outcomes

2018 ◽  
Vol 195 ◽  
pp. 252-257 ◽  
Author(s):  
Michael Paulzen ◽  
Tamme W. Goecke ◽  
Maxim Kuzin ◽  
Marc Augustin ◽  
Gerhard Gründer ◽  
...  
Keyword(s):  
Therapeutic Drug Monitoring ◽  
Amniotic Fluid ◽  
Cord Blood ◽  
Drug Monitoring ◽  
Maternal Blood ◽  
Therapeutic Drug ◽  
Obstetrical Outcomes

Phenoxybenzameve Placental Transfer during the Third Trimester

1996 ◽  
Vol 30 (11) ◽  
pp. 1249-1251 ◽  
Author(s):  
Maria L Santeiro ◽  
Carine Stromquist ◽  
Lance Wyble
Keyword(s):  
Amniotic Fluid ◽  
Perinatal Depression ◽  
Placental Transfer ◽  
Male Infant ◽  
Maternal Blood ◽  
Maternal Plasma ◽  
Third Trimester ◽  
Days Of Therapy ◽  
Maternal Hypertension ◽  
Placental Passage

OBJECTIVE: To report phenoxybenzamine placental transfer in the treatment of maternal hypertension secondary to pheochromocytoma. CASE SUMMARY: A 22-year-old woman diagnosed with pheochromocytoma was medically managed at 33 weeks gestation with oral phenoxybenzamine and labetalol until delivery 26 days later. To determine phenoxybenzamine placental passage, at the time of cesarean section simultaneous samples were obtained from the cord blood, maternal blood, and amniotic fluid. Additional blood samples were obtained from the newborn at 32 and 80 hours of life. Mean concentrations of phenoxybenzamine from cord and maternal plasma and in amniotic fluid were 103.3,66, and 79.3 ng/mL, respectively; the newborn's plasma concentration at 32 hours of life was 22.3 ng/mL. At the time of delivery, the 2475-g male infant exhibited perinatal depression; mild transient hypotension was also noted for the first few days of life. DISCUSSION: The fetal—maternal plasma accumulation ratio of 1.6:1 indicates that at this gestational age after 26 days of therapy, the placental transfer of phenoxybenzamine occurs and is accompanied by accumulation in the fetal blood. CONCLUSIONS: Because of the placental transfer of phenoxybenzamine, mild perinatal depression and transient hypotension may occur in newborns of mothers receiving this medication. These newborns must be closely monitored during the first few days of life for respiratory depression and hypotension.

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