Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ji Hong Park ◽  
Ji Hyun Kim ◽  
Yo Han Ahn ◽  
Hee Gyung Kang ◽  
Il Soo Ha ◽  
...  
Keyword(s):  
Metabolic Acidosis ◽  
Short Stature ◽  
De Novo ◽  
Plasma Renin ◽  
Endocrine Function ◽  
First Case ◽  
Pseudohypoaldosteronism Type Ii ◽  
Stimulation Tests ◽  
Severity Of The Disease ◽  
Potassium Gradient

Abstract Objectives: Gordon syndrome (GS), also known as pseudohypoaldosteronism type II, is a rare tubular disease characterized by hypertension, hyperkalemia, and metabolic acidosis. Its causative genes are CUL3, KLHL3, WNK1, and WNK4, and they are associated with varying severity of the disease. Herein, we report the first case of GS caused by a CUL3 mutation in a patient with short stature in Korea.Case presentation: A 7-year-old boy had hypertension, metabolic acidosis, and persistent hyperkalemia, which were initially detected during the evaluation of short stature. He was born small for gestational age at late preterm gestation. Laboratory test findings showed hyperkalemia with low trans-tubular potassium gradient, hyperchloremic metabolic acidosis with a normal anion gap, and low plasma renin levels. Genetic analysis revealed a heterozygous de novo mutation in the CUL3 gene (c.1377+1G > C in intron 9). Thus, a diagnosis of GS was made. The results of the endocrine function test (including growth hormone stimulation tests) were normal. After thiazide treatment, the patient’s electrolyte levels were normalized. However, he presented with persistent hypertension and short stature.Conclusions: GS should be considered in children with short stature, hypertension, and hyperkalemia, and early treatment may reduce complications.

scholarly journals Hypertension Accompanied by Hyperaldosteronism, Hyperkalemia, and Hyperchloremic Acidosis: A Case Report and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Yunyun Yang ◽  
Yang Ou ◽  
Yan Ren ◽  
Haoming Tian ◽  
Tao Chen
Keyword(s):  
Metabolic Acidosis ◽  
Plasma Renin ◽  
Plasma Aldosterone ◽  
Renin Activity ◽  
Heterozygous Mutation ◽  
Plasma Aldosterone Concentration ◽  
First Case ◽  
Whole Exome ◽  
Exon 11 ◽  
Clinical Problems

This study reported on a 24-year-old woman who complained of a paroxysmal headache for six months and elevated blood pressure for four months. Laboratory examination revealed increased serum potassium and chloride levels, metabolic acidosis, suppressed renin activity, and increased plasma aldosterone concentration. Whole-exome sequencing revealed a heterozygous mutation in exon 11 of the KLHL3 gene: c.1298G > A. After treatment with low-dose hydrochlorothiazide, her clinical problems were controlled. This patient is the first case of Gordon syndrome (GS) within the Chinese population caused by a heterozygous KLHL3 mutation. A systematic review of the published literature identified 27 patients with GS caused by a KLHL3 mutation. These patients had a mean age of 28.2 ± 22.0 years; 74.1% presented with hypertension, 76.9% with hyperkalemia, and 59.1% with metabolic acidosis. The patients also had varying levels of plasma renin activity and plasma aldosterone concentrations.

scholarly journals A Rare Case of Pseudohypoaldosteronism Type II or Gordon Syndrome

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A105-A105
Author(s):  
F N U Manas ◽  
Shobha Mandal ◽  
Barbara L Mols-Kowalczewski
Keyword(s):  
Blood Pressure ◽  
Metabolic Acidosis ◽  
Family History ◽  
Rare Case ◽  
Plasma Renin ◽  
Type Ii ◽  
Arterial Blood ◽  
Pseudohypoaldosteronism Type Ii ◽  
History Of ◽  
Pseudohypoaldosteronism Type

Abstract Introduction: Pseudohypoaldosteronism type II (PHA II) or Gordon Syndrome is a rare, autosomally inherited disease with unknown prevalence. It is caused by mutations in the WNK1, WNK4, CUL3, or KLHL3 gene. It is characterized by hypertension, hyperkalemia, hyperchloremic metabolic acidosis and low plasma aldosterone levels, but otherwise normal kidney function. The age of onset of PHA2 is variable, ranging from infancy or childhood to adolescence and adultdood. The electrolyte and blood pressure abnormalities of PHA II is often managed with salt restriction and hydrochlorthiazide (HCTZ). Here we report a rare case of Pseudohypoaldosteronism type II in an adolescent patient. Case Presentation: A 16-yo female with past medical history of asthma and anemia presented to the emergency department with acute severe abdominal/suprapubic pain, associated with diaphoresis, non bloody diarrhea and non bilious non bloody vomiting. The patient also reported daily headaches relieved with Tylenol. In the ED, she was found to be hypertensive at 190/118 mmHg. Blood count showed mild anemia but normal white count and platelets. Comprehensive metabolic panel showed sodium 140, potassium 6.6, chloride 115, bicarbonate 16, creatinine 0.5, and normal liver enzymes. Urine electrolytes were as follows: sodium 189, potassium 20.8 and chloride 140. Arterial Blood Gas ahowed pH of 7.32. Plasma renin activity was low normal at 0.34 and aldosterone level was 2. CT scan of abdomen and pelvis was unremarkable. The blood work was consistent with pseudohypoaldosteronism type II or Gordon syndrome. The patient was adopted so there was no family history. She was started on hydrochlorothiazide. Later, she developed severe itching reaction with hydrochlorthiazide. She is currently being treated with Indapamide, with well controlled blood pressure and normal electrolytes. Conclusion: Pseudohypoaldosteronism type II or Gordon’s Syndrome is a rare disease, with usually autosomal dominant inheritance, with no specific diagnostic criteria for diagnosis. It should be suspected in adolescent or adult patients with hyperkalemia with normal glomerular filtartion, accompanied by hypertension (can be absent), metabolic acidosis, hyperchloremia, decreased plasma renin, relatively suppressed aldosteronism and family history of similar findings.

scholarly journals Endovascular repair of de novo post-stenotic aortic coarctation aneurysms with complex collateral supply: two cases with long and medium term follow-up

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Omar Abdel-Hadi ◽  
John Thomson ◽  
Simon J. McPherson
Keyword(s):  
Stent Graft ◽  
Endovascular Repair ◽  
Aortic Coarctation ◽  
De Novo ◽  
Aortic Aneurysms ◽  
Medium Term ◽  
First Case ◽  
Case Presentations ◽  
Selective Embolisation

Abstract Purpose To report the technical details and outcomes of the endovascular repair of two cases of de novo post-stenotic aortic coarctation aneurysms complicated by complex collateral supply. Case presentations Two patients with thoracic aortic aneurysms complicated by complex aneurysm sac collaterals distal to a previously untreated thoracic aortic coarctation have been treated at our institution. Open surgical intervention was deemed to carry a high risk of haemorrhage due to the degree and complexity of arterial collateralisation. In the first case, selective embolisation of collateral vasculature was performed prior to successful exclusion of the aneurysm with a thoracic endovascular stent-graft and then balloon-expandable stent dilatation of the coarctation stenosis. In the second case, the additional technique of using a jailed sheath within the aneurysm sac allowed for selective embolisation of previously inconspicuous collaterals after deployment of the stent-graft and stent combination. Results Technical success was achieved in both patients with successful occlusion of the aneurysm, with no recorded complications or aneurysm sac perfusion in the long and medium term follow up periods respectively. Conclusion De novo post stenotic aortic coarctation aneurysms are rare. Endovascular repair is a safe and durable technique that provides a less invasive alternative to open surgical repair. The use of a jailed sheath allows for complete selective embolisation of complex collaterals avoiding a type II aneurysm endoleak.

scholarly journals Pustular Rash in Crohn’s Patient on Ustekinumab Raises Concern for Drug-Induced Paradoxical Psoriasis

2021 ◽  
pp. 662-666
Author(s):  
Mitra Barahimi ◽  
Scott Lee ◽  
Kindra Clark-Snustad
Keyword(s):  
Side Effect ◽  
De Novo ◽  
Pustular Psoriasis ◽  
Initial Weight ◽  
Drug Induced ◽  
Clinical Recurrence ◽  
Potential Side Effect ◽  
First Case ◽  
Tnf Antagonist ◽  
Subcorneal Pustular Dermatosis

We report the case of a 51-year-old male with Crohn’s disease (CD) who developed a reproducible pustular rash after ustekinumab (UST) administration. The patient first presented with a pustular rash on his hands, body, extremities, and scalp starting 5 weeks after his initial weight-based UST induction. The rash resolved spontaneously, then recurred 4 weeks after his first subcutaneous maintenance dose of UST 90 mg. Biopsy of the affected area demonstrated subcorneal pustular dermatosis (SPD). UST was discontinued and the rash resolved. Unfortunately, the patient experienced clinical recurrence of CD, and given prior failure of multiple CD medications, UST was restarted with premedication. Two weeks after UST re-induction, the rash recurred, though less severe. Given improvement in CD symptoms, UST was continued and the rash managed with topical corticosteroids. This is the first case of drug-induced SPD associated with UST. One case report has previously described de novo pustular psoriasis associated with UST in a patient with CD and enteropathic arthritis. Notably, SPD and pustular psoriasis can be histologically indistinguishable. The development of a paradoxical psoriasiform rash is thought to be one of the few dose and duration dependent side effects of TNF-antagonist therapy but has not previously been established as a side effect of UST. This case demonstrates a new potential side effect of UST.

scholarly journals The rare hemoglobin variant Hb Mizuho: report of a Swiss family and literature review

2021 ◽  
Author(s):  
Linet Njue ◽  
Cesare Medri ◽  
Peter Keller ◽  
Miriam Diepold ◽  
Behrouz Mansouri Taleghani ◽  
...  
Keyword(s):  
Literature Review ◽  
Hemolytic Anemia ◽  
De Novo ◽  
Clinical History ◽  
Molecular Techniques ◽  
De Novo Mutation ◽  
First Case ◽  
History Of ◽  
Transfusion Dependency ◽  
Unstable Hemoglobin

AbstractHb Mizuho is a very rare unstable hemoglobin; here, we describe the clinical history of three Swiss family members with Hb Mizuho together with a systematic review of the previously six published cases. The clinical history of the adult woman we report here is unique since this is the first Hb Mizuho presenting with Moyamoya complications and the first case reported with long-term erythrocyte exchange. The literature review showed that Hb Mizuho was mainly reported as a de novo mutation, with the exception of children descended from known cases. All published patients with this unstable hemoglobin showed severe hemolytic anemia with the exception of one; all were regularly transfused. Patients with higher HbF levels might require fewer transfusions. All patients underwent splenectomy at a median age of 4 years and had variable clinical improvement; some achieved complete resolution of transfusion dependency after splenectomy. Iron overload in Hb Mizuho patients seems to be mainly attributed to transfusions and has less to do with ineffective erythropoiesis. Diagnosis might be challenging; a normal hemoglobin electrophoresis should not rule out the diagnosis of unstable hemoglobin in patients with otherwise unexplained hemolytic anemia. This series shows the enormous utility of using molecular techniques for diagnosis.

scholarly journals Clinical Characteristics and CT Manifestations of 143 Patients With 2019 Novel Coronavirus Disease (COVID-19) in Taizhou City, Zhejiang, China

2020 ◽  
Author(s):  
Yani Kuang ◽  
Susu He ◽  
Shuangxiang Lin ◽  
Rui Zhu ◽  
Rongzhen Zhou ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Protein A ◽  
Clinical Manifestations ◽  
Imaging Features ◽  
First Case ◽  
Severe Group ◽  
Laboratory Examinations ◽  
The Difference ◽  
Severity Of The Disease ◽  
Novel Coronavirus

Abstract Background: In December 2019, the first case of pneumonia associated with the SARS-CoV-2 was found in Wuhan and rapidly spread throughout China, so data are needed on the affected patients. The purpose of our study was to find the clinical manifestations and CT features of COVID-19.Methods: All patients with COVID-19 in Taizhou city were retrospectively included and divided into non-severe group and severe group according to the severity of the disease. The clinical manifestations, laboratory examinations and imaging features of COVID-19 patients were analyzed, and the differences between the two groups were compared.Results: A total of 143 laboratory-confirmed cases were included in the study, including 110 non-severe patients and 33 severe patients. The median age of patients was 47 (range 4–86 years). Fever (73.4%) and cough (63.6%) were the most common initial clinical symptoms. Between two groups of cases, the results of aspartate transaminase, creatine kinase and lactate dehydrogenase, serum albumin, CR, glomerular filtration rate, amyloid protein A, fibrinogen, calcitonin level and oxygen partial pressure, IL – 10, absolute value of CD3, CD4, CD8 were different, and the difference was statistically significant (P < 0.05). Therefore, these quantitative indicators can be used to help assess the severity. On admission, the CT showed that the lesions were mostly distributed in the periphery of the lung or subpleural (135 cases (98%)), and most of lesions presented as patchy (81%), mixed density (63%) shadow. Consolidation (68% vs 41%), bronchial inflation signs (59% vs 41%), and bronchiectasis (71% vs 39%) were more common in the severe group.Conclusions: Most of the cases of COVID-19 in Taizhou have mild symptoms and no death. In addition to clinical symptoms, some laboratory tests (such as absolute values of CD4 and CD8) and CT findings can be used to assess the severity of the disease.

scholarly journals MED13L-related intellectual disability due to paternal germinal mosaicism

2021 ◽  
pp. mcs.a006124
Author(s):  
Beata Bessenyei ◽  
Istvan Balogh ◽  
Attila Mokanszki ◽  
Aniko Ujfalusi ◽  
Rolph Pfundt ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Mediator Complex ◽  
Facial Dysmorphism ◽  
Facial Features ◽  
Speech Delay ◽  
Motor Delay ◽  
First Case ◽  
Intragenic Deletion ◽  
Germinal Mosaicism

The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and distinctive facial features with or without cardiac defects; MIM # 616789) is one of the most common form of syndromic intellectual disability with about a hundred cases reported so far. Affected individuals share overlapping features comprising intellectual disability, hypotonia, motor delay, remarkable speech delay, and a recognizable facial gestalt. De novo disruption of the MED13L gene by deletions, duplications or sequence variants has been identified deleterious. Siblings affected by intragenic deletion transmitted from a mosaic parent have been reported once in the literature. We now present the first case of paternal germinal mosaicism for a missense MED13L variant causing MRFACD syndrome in one of the father's children and be the likely cause of intellectual disability and facial dysmorphism in the other. As part of the Mediator complex, the MED proteins have an essential role in regulating transcription. 32 subunits of the Mediator complex genes have been linked to congenital malformations that are now acknowledged as transcriptomopathies. The MRFACD syndrome has been suggested to represent a recognizable phenotype.

scholarly journals Auxology Is a Valuable Instrument for the Clinical Diagnosis of SHOX Haploinsufficiency in School-Age Children with Unexplained Short Stature

2003 ◽  
Vol 88 (10) ◽  
pp. 4891-4896 ◽  
Author(s):  
Gerhard Binder ◽  
Michael B. Ranke ◽  
David D. Martin
Keyword(s):  
Short Stature ◽  
De Novo ◽  
Fragment Size ◽  
Mutation Screening ◽  
Idiopathic Short Stature ◽  
Paternal Allele ◽  
Leg Length ◽  
Sitting Height ◽  
Arm Span ◽  
Hand Radiography

Abstract SHOX (short stature homeobox-containing gene) mutations causing haploinsufficiency have been reported in some individuals with idiopathic short stature and in many patients with Leri-Weill-dyschondrosteosis. Around 80% of SHOX mutations are complete gene deletions, whereas diverse point mutations account for the rest. The aim of this study was to estimate the prevalence of SHOX mutations in children with idiopathic short stature and to give an unbiased characterization of the haploinsufficiency phenotype of such children. We recruited 140 children (61 girls), in our clinic, with idiopathic short stature, which was defined by the presence of normal IGF-I and free T4; a normal karyotype in females; the absence of endomysium antibodies, of chronic organic, psychological, or syndromatic disease; and by the lack of clear signs of any osteodysplasia. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. Two highly polymorphic microsatellite markers located around the SHOX coding region (CA-SHOX repeat and DXYS233) were PCR-amplified with fluorescent primers and separated in an automatic sequencing machine. Analysis of parental DNA was performed in the probands who had only one fragment size of each of both markers. SHOX haploinsufficiency caused by a SHOX deletion was confirmed in three probands (2%), all females, who carried a de novo deletion through loss of the paternal allele. Their auxological data revealed a significant shortening of arms and legs in the presence of a low-normal sitting height, when compared with the other 137 children tested. Therefore, the extremities-trunk ratio (sum of leg length and arm span, divided by sitting height) for total height was significantly lower in the three SHOX haploinsufficient probands, in comparison with the whole group. This observation was confirmed with the auxological data of five additional patients (four females) previously diagnosed with SHOX haploinsufficiency; all but the youngest girl had height-adjusted extremities-trunk ratios more than 1 sd below the mean. All children with SHOX haploinsufficiency exhibited at least one characteristic radiological sign of Leri-Weill-dyschondrosteosis in their left-hand radiography, namely triangularization of the distal radial epiphysis, pyramidalization of the distal carpal row, or lucency of the distal ulnar border of the radius. Our observations suggest that it is rational to limit SHOX mutation screening to children with an extremities-trunk ratio less than 1.95 + 1/2 height (m) and to add a critical judgment of the hand radiography.

The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication

2011 ◽  
Vol 155 (12) ◽  
pp. 3054-3059 ◽  
Author(s):  
Maria Piccione ◽  
Davide Vecchio ◽  
Simona Cavani ◽  
Michela Malacarne ◽  
Mauro Pierluigi ◽  
...  
Keyword(s):  
De Novo ◽  
Myoclonic Epilepsy ◽  
First Case ◽  
22Q11.2 Microduplication
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