scholarly journals Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene

Reumatismo ◽  
2020 ◽  
Vol 72 (1) ◽  
pp. 67-70
Author(s):  
E. Conticini ◽  
A. Negro ◽  
L. Magnani ◽  
R. Ugolini ◽  
B. Atienza-Mateo ◽  
...  
Keyword(s):  
Late Onset ◽  
Close Correlation ◽  
Gitelman Syndrome ◽  
Neurological Involvement ◽  
Heterozygous Mutation ◽  
Supporting Evidence ◽  
Salt Wasting ◽  
Slc12a3 Gene ◽  
First Case ◽  
Patient Reported

Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 gene. Symptoms may be systemic, neurological, cardiovascular, ophthalmological or musculoskeletal. We describe a 70 year-old patient affected by recurrent arthralgias, hypoesthesia and hyposthenia in all 4 limbs and severe hypokalemia, complicated by atrial flutter. Moreover, our patient reported eating large amounts of licorice, and was treated with medium-high dosages of furosemide, thus making diagnosis very challenging. Genetic analysis demonstrated a novel heterozygous mutation in the SLC12A3 gene; therefore, we diagnosed GS and started potassium and magnesium replacement. GS combined with chondrocalcinosis and neurological involvement is quite common, but this is the first case of an EMG-proven severe neuropathy associated with GS. Herein, we underline the close correlation between hypomagnesemia, chondrocalcinosis and neurological involvement. Moreover, we report a new heterozygous mutation in exon 23 (2738G>A), supporting evidence of a large genetic heterogeneity in this late-onset congenital tubulopathy.

A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review

2020 ◽  
Vol 42 (9) ◽  
pp. 1035-1040
Author(s):  
Minglan Yang ◽  
Ying Dong ◽  
Jianqing Tian ◽  
Li Yan ◽  
Yawen Chen ◽  
...  
Keyword(s):  
Literature Review ◽  
Gitelman Syndrome ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Slc12a3 Gene

Genetic Analysis of Gitelman Syndrome Co-Existent with Hyperthyroidism in a 2 Years Old Boy

2020 ◽  
Vol 20 ◽  
Author(s):  
Shufeng Yu ◽  
Caixia Wang
Keyword(s):  
Metabolic Alkalosis ◽  
Final Diagnosis ◽  
Gitelman Syndrome ◽  
Heterozygous Mutation ◽  
Slc12a3 Gene ◽  
Serum Aldosterone ◽  
Urinary Potassium ◽  
Blood Potassium ◽  
Urine Potassium ◽  
The Relationship

: A two-year-old boy went to the doctor for hypokalemia and metabolic alkalosis. Laboratory examination revealed that urinary potassium excretion and serum aldosterone level increased, at the same time with hyperthyroidism and thyroid related antibodies positive.Genetic testing showed that there was a complex heterozygous mutation in SLC12A3 gene ,c.1077C>G(p.N359K) and c.1567G>A(p.A523?)，the final diagnosis was Gitelman syndrome and autoimmune hyperthyroidism.Gitelman syndrome is an autosomal recessive genetic disease caused by the inactivation mutation of SLC12A3 gene. The onset age is more than 6 years old, mainly manifested as low blood potassium, low blood sodium, low blood chlorine, metabolic alkalosis, increased urine potassium and urine chlorine excretion and low urine calcium.Autoimmune hyperthyroidism due to the autoimmune disorders. The highest incidence rate in children is Graves' disease, followed by chronic lymphocytic thyroiditis.Several cases of Gitelman syndrome with autoimmune hyperthyroidism had been identified, most of which were Asian adults, and the case we identified is the first reported case of children under 14 years old with both Gitelman syndrome and autoimmune hyperthyroidism.At the same time, we carried out high-precision clinical exosome analysis of the gene of this case, and further explored the relationship between Gitelman syndrome and autoimmune hyperthyroidism from the perspective of gene.

scholarly journals Novel heterozygous mutation of SLC12A3 gene in Gitelman syndrome

QJM ◽  
2021 ◽  
Author(s):  
T Wang ◽  
Y Chen ◽  
X Yin ◽  
H Qiu
Keyword(s):  
Gitelman Syndrome ◽  
Heterozygous Mutation ◽  
Slc12a3 Gene

scholarly journals A Case Report: Gitelman Syndrome or Bartter Syndrome?

2020 ◽  
Author(s):  
YuanBin WU ◽  
Jingjing Hu ◽  
Bo Wang ◽  
Dongxin Yang ◽  
Han Zheng ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Gitelman Syndrome ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Slc12a3 Gene ◽  
Hypokalemic Alkalosis ◽  
Chinese Girl ◽  
History Of ◽  
Laboratory Examinations

Abstract Background: Gitelman syndrome (GS) is a rare autosomal recessive inherited tubular disease which is caused by mutation in the SLC12A3 gene. It is characterized by hypokalemic alkalosis with hypomagnesemia and hypocalciuria, and can cause serious complications such as arrhythmia, syncope, sudden death, etc. Bartter syndrome (BS) is similar to Gitelman syndrome in clinical and laboratory examinations. If lack of sufficient understanding of the disease, it is easy to cause misdiagnosis and missed diagnosis. Case presentation: A 6-year-old Chinese girl presented with history of hand and foot spasms and was diagnosed with hypokalemia. Although multiple symptomatic treatments of potassium supplementation was given, is the concentration of potassium was still at a low level. Gene analysis revealed that the presence of two heterozygous mutations, i.e. a missense mutation c.248G> A and a frameshift mutation c.2875_2876del, in the SLC12A3 gene.The child was diagnosed with Gitelman syndrome(GS) due to SLC12A3 compound heterozygous mutation. Through treatment, the level of ion metabolism in children remains stable. Conclusions: By reviewing its clinical characteristics and diagnosis and treatment ideas, we can help improve clinicians' understanding of children's GS.

Novel heterozygous mutation of tissue-non-specific alkaline phosphatase (TNSALP) gene causing late-onset hypophosphatasia

2018 ◽  
Author(s):  
Rosaria Maddalena Ruggeri ◽  
Rosaria Certo ◽  
Vito Guarnieri ◽  
Salvatore Giovinazzo ◽  
Francesco Ferrau ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Late Onset ◽  
Heterozygous Mutation ◽  
Specific Alkaline Phosphatase

scholarly journals Left atrial appendage closure device complicated by late-onset pericardial effusion and tamponade: a case report

2021 ◽  
Vol 5 (3) ◽  
Author(s):  
Stefano Albani ◽  
Nicola Berlier ◽  
Francesco Pisano ◽  
Paolo Scacciatella
Keyword(s):  
Pericardial Effusion ◽  
Left Atrial ◽  
Left Atrial Appendage ◽  
Late Onset ◽  
Oral Anticoagulants ◽  
Bleeding Risk ◽  
Atrial Appendage ◽  
Closure Device ◽  
Device Implantation ◽  
First Case

Abstract Background Late-onset complications of left atrial appendage occlusion (LAAO) device procedure are anecdotal and there are no such complications reported in literature using Cardia Ultraseal (Cardia, Inc., Eagan, MN, USA). Case summary We report the case of a 74-year-old Caucasian man affected by paroxysmal atrial fibrillation with significant bleeding risk (familiar thrombocytopenia, macroscopic haematuria episodes during therapy with direct oral anticoagulants, HAS-BLED risk score: 4) and ischaemic risk as well (CHADSVASC score: 3). The patient was treated with LAAO device implantation for high bleeding risk. Subsequently, after 26 days from LAAO procedure, he was admitted to the emergency department for haematic cardiac tamponade. The patient was successfully treated with subxyphoidal pericardiocentesis in the acute phase, unfortunately cardiac arrest occurred during the transfer to the referral hospital for urgent cardiac surgery. Permanent neurological damage was reported and the patient died on day 28. Discussion LAAO late-onset complications are very rare and the case presented is the first case described of late-onset pericardial effusion and tamponade secondary to the Cardia Ultraseal LAAO device implantation. We present a revision of the literature regarding the occurrence of similar adverse events and discuss the hypothetical mechanism of this major complication.

scholarly journals B.05 Hemi-laryngopharyngeal spasm (HELPS) syndrome: The discovery, cure, and characterization of a new neurological condition

2017 ◽  
Vol 44 (S2) ◽  
pp. S11-S11
Author(s):  
C Honey ◽  
M Morrison
Keyword(s):  
Surgical Care ◽  
Review Of The Literature ◽  
The Past ◽  
First Case ◽  
Patient Reported ◽  
Operative Outcome ◽  
Small Cohort ◽  
The Common ◽  
Similar Motor

Background: We published the world’s first case of hemi-laryngpharyngeal spasm (HELPS) syndrome cured by microvascular decompression (MVD) of the Xth cranial nerve in 2016. We now present a small cohort of patients (n=3) successfully treated with surgery in order to better delineate the common characteristics of this syndrome, diagnostic tests of choice, nuances of their surgical care and outcomes of their treatment. Methods: The history and physical examination of three patients with HELPS syndrome are presented. Pre-operative laryngoscopy, neuroimaging, response to botox and intra-operative videos are detailed. Post-operative outcome and complications are presented. Results: Each patient reported similar motor (choking) and sensory (coughing) features in their history. Episodic choking relentlessly progressed over the years until it occurred while sleeping and with frightening severity prompting tracheostomy in one patient and intubation in another. A “tickling” sensation deep in the throat triggered episodic coughing that worsened over the years until it occurred while sleeping and with frightening severity (syncope and incontinence). Conclusions: A review of the literature suggests that patients with similar symptoms, often called episodic laryngospasm in the past, have been treated with psychotherapy or antacids. With the recognition that a clearly defined subset of these patients have HELPS syndrome, we can offer them the potential of a neurosurgical cure.

scholarly journals Hydrocephalus presenting as idiopathic aqueductal stenosis with subsequent development of obstructive tumor: report of 2 cases demonstrating the importance of serial imaging

2017 ◽  
Vol 20 (4) ◽  
pp. 329-333 ◽  
Author(s):  
Jarod L. Roland ◽  
Richard L. Price ◽  
Ashwin A. Kamath ◽  
S. Hassan Akbari ◽  
Eric C. Leuthardt ◽  
...  
Keyword(s):  
Late Onset ◽  
Diagnostic Testing ◽  
Subsequent Development ◽  
Mass Effect ◽  
Aqueductal Stenosis ◽  
Pineal Region ◽  
Serial Imaging ◽  
Cerebrospinal Fluid Diversion ◽  
First Case

The authors describe 2 cases of triventricular hydrocephalus initially presenting as aqueductal stenosis that subsequently developed tumors of the pineal and tectal region. The first case resembled late-onset idiopathic aqueductal stenosis on serial imaging. Subsequent imaging revealed a new tumor in the pineal region causing mass effect on the midbrain. The second case presented in a more typical pattern of aqueductal stenosis during infancy. On delayed follow-up imaging, an enlarging tectal mass was discovered. In both cases hydrocephalus was successfully treated by cerebrospinal fluid diversion prior to tumor presentation. The differential diagnoses, diagnostic testing, and treatment course for these unusual cases are discussed. The importance of follow-up MRI in cases of idiopathic aqueductal stenosis is emphasized by these exemplar cases.

Late-onset alcohol dependence: patient-reported problems

2016 ◽  
Vol 25 (2) ◽  
pp. 139-145 ◽  
Author(s):  
Karin F. G. Van Montfoort-De Rave ◽  
Gerdien H. De Weert-Van Oene ◽  
Harmen Beurmanjer ◽  
Bauke Koekkoek
Keyword(s):  
Alcohol Dependence ◽  
Late Onset ◽  
Patient Reported
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