A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter’s syndrome with 4 years follow-up

Abstract Background Transient antenatal Bartter’s syndrome caused by MAGED2 mutation is a rare X-linked recessive renal tubular disorder. Cases reported are mostly infants, and the long-term prognosis of the disease is still under investigation. Case presentation We encountered a preterm male infant with polyhydramnios, polyuria, salt loss, hypercalciuria, nephrocalcinosis and alkalosis. Antenatal Bartter’s syndrome was suspected, but these clinical symptoms surprisingly disappeared after about 2 months. This led to the clinical diagnosis of transient antenatal Bartter’s syndrome. Gene analysis in this patient disclosed a novel variant (c.1598C > T, p.Ala533Val) in exon 12 of MAGED2 gene, and his mother was a heterozygous carrier. This patient was followed up in clinic for 4 years without recurrence of imbalance of potassium, sodium and chloride. His height and weight were in normal range, and all laboratory examinations and nephrotic ultrasound were also normal. Conclusions We reported the first Chinese case of transient antenatal Bartter’s syndrome caused by MAGED2 mutation. The 4-year follow-up of our case further demonstrates the benign prognosis of the disease and indicates that early recognition of this phenotype could avoid unnecessary treatments.

Download Full-text

A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios

Frontiers in Pediatrics ◽

10.3389/fped.2021.778814 ◽

2021 ◽

Vol 9 ◽

Author(s):

Xiaoxia Wu ◽

Le Huang ◽

Caiqun Luo ◽

Yang Liu ◽

Jianmin Niu

Keyword(s):

Clinical Characteristics ◽

Frameshift Mutation ◽

Novel Mutation ◽

Bartter’S Syndrome ◽

Bartter's Syndrome ◽

Case Presentation ◽

New Novel ◽

Novel Variant ◽

Antenatal Bartter’S Syndrome

Background: Polyhydramnios occurs frequently during pregnancy. Mutations in the MAGED2 gene can cause X-linked acute early-onset polyhydramnios with a severe but transient form of antenatal Bartter's syndrome.Case Presentation: Here, we report a new novel frameshift mutation c.733_734delCT (p. Leu245GlufsTer4) in the MAGED2 gene (NM_177433.1) that caused prenatal polyhydramnios, but did not cause polyuria after birth. Follow-up was conducted for 2 months, and the baby's growth and development were normal, without polyuria and renal impairment. In addition, we identified all individuals with MAGED2 mutations reported in the literature before March 2021.Conclusion: We report a new case with a novel variant of the MAGED2 gene that caused severe hydramnios but with a good result and summary clinical characteristics in a newborn with antenatal Bartter's syndrome caused by an MAGED2 mutation. Good prenatal diagnosis and genetic consultation can improve pregnancy monitoring and newborn management.

Download Full-text

A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect.

Journal of the American Society of Nephrology ◽

10.1681/asn.v8111706 ◽

1997 ◽

Vol 8 (11) ◽

pp. 1706-1711 ◽

Cited By ~ 3

Author(s):

C L Kurtz ◽

L Karolyi ◽

H W Seyberth ◽

M C Koch ◽

R Vargas ◽

...

Keyword(s):

Mutant Allele ◽

Common Ancestor ◽

Costa Rican ◽

Bartter’S Syndrome ◽

Bartter's Syndrome ◽

Renal Tubular Disorders ◽

Genes Encoding ◽

Renal Tubular ◽

Distinct Features ◽

Antenatal Bartter’S Syndrome

Bartter's syndrome involves an overlapping set of closely related renal tubular disorders that can be subdivided into at least three clinical phenotypes: (1) the hypercalciuric antenatal Bartter variant; (2) the classic Bartter variant; and (3) the hypocalciuric-hypomagnesemic Gitelman variant. Recent data demonstrate that in several phenotypically indistinguishable cohorts, antenatal Bartter's syndrome is genetically heterogeneous. In these patients, mutations in the genes encoding either the bumetanide-sensitive Na-K-2Cl cotransporter (NKCC2) or the ATP-regulated potassium channel ROMK (KCNJI) have been identified. A cohort of 20 Costa Rican patients with a congenital syndrome that bears strong similarities to antenatal Bartter's syndrome but also has several distinct features has recently been described. In this cohort, we have identified a predominant mutation that introduces a premature stop in codon W625 of the NKCC2 gene (SCL12A1). This mutant allele is contained on a single common haplotype, suggesting that the majority of antenatal Bartter's syndrome patients in Costa Rica share a single common ancestor.

Download Full-text

A Rare Case Report of Acquired Bartters With Positive Anti Scl70 Antibody

Journal of the Endocrine Society ◽

10.1210/jendso/bvab048.212 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

pp. A106-A106

Author(s):

Arunkumar Ramanarth Pande ◽

Deepali Mohanty

Keyword(s):

Systemic Sclerosis ◽

Serum Cortisol ◽

Bartter Syndrome ◽

Age Group ◽

Bartter’S Syndrome ◽

Bartter's Syndrome ◽

Potassium Supplementation ◽

Renal Tubular ◽

Work Up

Abstract Introduction: Bartter syndrome autosomal recessive renal tubular disorders usualy presents in infant age group or antenatallyCase Description64 years housewife, a known case of hypothyroidism with in emergency with generalized weakness and hypotension. She had an small adrenal nodule work up which showed that it was non functional. On evaluation at time of stress (blood pressure 70/50) her serum cortisol was 300nmol/l and she was therefore started on hydrocortisone. Her records revealed hypokalemia for last 2 years. Workup of hypokalemia showed kaliuresis, metabolic alkalosis, hypercalciuria and excess chloride excretion in the urine, suggestive of bartter’s syndrome. But this needed further confirmation as bartter’s is rare in this age group and also the test was done at the time of stress. She was started on spironolactone and oral potassium supplementation. CECT head done for evaluation of postural dizziness showed chronic cortical venous thrombosis. On follow up ACTH stimulated cortisol was done which showed normal cortisol level so steroid was stopped. She was readmitted one month later with hypokalemia(K-1.8 meq/l) while being on same dosage of spironolactone and potassium. Workup of hypokalemia showed same feature of bartter’s syndrome. Considering the chain of events, a suggestion of bartter’s and response to steroid, a diagnosis of acquired autoimmune bartter’s syndrome along with hypothyroidism was made. An autoimmune work up showed anti SCL 70 positive2+(++). Patient responded to steroid, spironolactone, indomethacin and oral potassium supplementation. Discussion: Bartter’s syndrome can rarely happen in old age too. Seek for autoimmune cause once we suspect acquired bartter’s. To best of our knowledge previously only one case has been reported of acquired Bartter with systemic sclerosis. Patient may develop systemic sclerosis in future as anti SCL70 antibody is very specific for it. It is positive in less than 1 % of general population. Anti SCL70 antibody is rarely positive in Sjogrens syndrome. Our patient did not feature of sjogren or systemic sclerosis even after 4 years follow up

Download Full-text

The Renal Tubular Defect of Bartter’s Syndrome

Nephron ◽

10.1159/000182834 ◽

1982 ◽

Vol 32 (2) ◽

pp. 140-148 ◽

Cited By ~ 17

Author(s):

Carmine Zoccali ◽

Ettore Bartoli ◽

Giuseppe Curatola ◽

Quirino Maggiore

Keyword(s):

Bartter’S Syndrome ◽

Bartter's Syndrome ◽

Renal Tubular

Download Full-text

Ammonium urate nephrolithiasis in a variant of Bartter's syndrome with intact renal tubular function

The Clinical Investigator ◽

10.1007/bf00252833 ◽

1994 ◽

Vol 72 (5) ◽

Cited By ~ 1

Author(s):

G. Yasuda ◽

R. Zierer ◽

A. Maio ◽

H. Shioniri ◽

M. Ishii ◽

...

Keyword(s):

Tubular Function ◽

Bartter’S Syndrome ◽

Bartter's Syndrome ◽

Renal Tubular Function ◽

Renal Tubular ◽

Ammonium Urate

Download Full-text

Non-resolving Findings in a Long-term Radiographic Follow-up of an Infant with Acute Paraffin Oil Aspiration

Journal of Clinical Imaging Science ◽

10.4103/2156-7514.126028 ◽

2014 ◽

Vol 4 ◽

pp. 2 ◽

Cited By ~ 1

Author(s):

George Stathis ◽

Konstantinos N. Priftis ◽

Maria Moustaki ◽

Efthymia Alexopoulou

Keyword(s):

Clinical Symptoms ◽

Male Infant ◽

Mineral Oil ◽

Imaging Findings ◽

Radiological Findings ◽

Lipoid Pneumonia ◽

Paraffin Oil ◽

Computed Tomography Scans

Acute lipoid pneumonia (LP) in children is a rare disorder caused by the aspiration of oil-based substances and is difficult to diagnose due to non-specific clinical symptoms and radiological findings. We report the case of a 5-month-old male infant with acute LP caused by accidental aspiration of a large amount of mineral oil. We present the imaging findings in the computed tomography scans performed during his hospitalization and focus on the residual abnormalities seen on a scan performed 7-years after the incident. This, to the best of our knowledge, is the longest follow-up report of an acute exogenous LP patient and the only case that demonstrates non-resolving abnormalities in a pediatric patient after a single acute episode of mineral oil aspiration.

Download Full-text

Long-term Outcomes of Patients with Anti–Leucine-Rich Glioma-Inactivated 1 Encephalitis

10.21203/rs.3.rs-76702/v1 ◽

2020 ◽

Author(s):

Shan Qiao ◽

Huai-kuan Wu ◽

Ling-ling Liu ◽

Ke-jun Zang ◽

Xuewu liu

Keyword(s):

Clinical Symptoms ◽

Early Recognition ◽

Chinese Patients ◽

Long Term Outcomes ◽

Ancillary Test ◽

Behavioral Abnormalities ◽

Long Term Follow Up ◽

And Behavior

Abstract Background: This report aims to provide a detailed description of the clinical manifestation, immunotherapy, and long-term outcomes of 117 Chinese patients with anti-leucine-rich glioma-inactivated 1 (LGI1) encephalitis. Methods: We retrospectively selected 117 patients diagnosed with anti-LGI1 encephalitis from the databases of multiple clinical centers from September 2014 to December 2019. The clinical features, ancillary test results, and details of long-term outcomes were analyzed.Results: Among the 117 anti-LGI1 encephalitis patients, 81 (69%) were male and 36 (31%) were female; the median onset age was 51 years (range: 30-77 years). The median time from symptom onset until diagnosis was 8.7 weeks (range: 2-49 weeks). The main features evaluated in our cohort were seizures, cognitive impairment, and mental and behavioral abnormalities. One hundred and nine patients were treated with immunotherapy, After 3-5 days of treatment, the clinical symptoms were somewhat alleviated in all the patients, and their memory, mental ability, and behavior improved. The median follow-up time was 33 months (range: 6-59 months). A total of 19 (16%) patients experienced a relapse; the median duration from onset to the first relapse was 5 (0.3-27) months. There were no mortalities during the follow-up period.Conclusions: The outcome of patients with anti-LGI1 encephalitis is mostly favorable, although some patients continue to suffer from cognitive dysfunction. Early recognition is of great significance for the treatment of anti-LGI1 encephalitis. Prompt adequate immunotherapy has positive implications for the improvement of clinical symptoms of anti-LGI1 encephalitis. Long-term follow-up is important for the assessment of LGI1 antibody-mediated encephalitis.

Download Full-text

Posterior Interosseous Fascicular Constriction Within the Radial Nerve in a Diabetic Patient With Bilateral Neuralgic Amyotrophy: A Case Report

Frontiers in Neurology ◽

10.3389/fneur.2021.701571 ◽

2021 ◽

Vol 12 ◽

Author(s):

Woojun Kim ◽

Soo Hwan Kang ◽

Jae Young An

Keyword(s):

Upper Limb ◽

Radial Nerve ◽

Clinical Symptoms ◽

Early Recognition ◽

Shoulder Girdle ◽

Sudden Onset ◽

Left Forearm ◽

Main Trunk ◽

Neuralgic Amyotrophy

Background: Neuralgic amyotrophy (NA) is an acute, monophasic, painful inflammatory dysimmune focal, or multifocal mononeuropathy. The lesion in NA is not always restricted to the brachial plexus but also involves individual nerves or branches. The prognosis of NA is less favorable than previously assumed, but the reasons for poor recovery remain unknown. Nerve constriction may be one of the causes of poor prognosis in NA.Case Presentation: Herein, we described a 54-year-old male with a history of type 2 diabetes in whom bilateral neuralgic amyotrophy developed with constriction of the posterior interosseous fascicle within the radial nerve. The patient experienced sudden-onset severe pain in both shoulders followed, 2 days later, by weakness in bilateral shoulders and the left forearm extensors over the subsequent month. The left forearm extensors were more severely affected than both shoulder girdle muscles. He noted a 7-kg weight loss for 1 month before pain onset. After diagnosing diabetic NA based on the clinical symptoms, imaging, and electrophysiological studies, treatment with systemic steroids improved pain and weakness in both shoulder muscles. Weakness in the left forearm extensors persisted after 1 month of steroid treatment. Follow-up ultrasound revealed constriction of the posterior interosseous fascicle within the main trunk of the left radial nerve at the elbow. Surgical exploration at 6 months after onset identified fascicle constriction, for which neurolysis was performed. Weakness in the extensors of the wrist and fingers did not improve during the 16-month follow-up.Conclusion: A single constriction of the fascicle within a peripheral nerve may often be under-recognized if NA presents with variable degrees of weakness in bilateral upper limbs. Furthermore, fascicular constriction without edema of the parent nerve may be easily missed on the initial ultrasound. A lack of early recognition of nerve constriction and delay in surgical intervention can result in unfavorable outcomes. The physician should consider the possibility of the fascicular constriction when evaluating patients suspected of brachial NA with significant weakness in the distal upper limb compared to the proximal weakness or weakness of the distal upper limb that does not improve over time.

Download Full-text