scholarly journals Kidney stones and moderate proteinuria as the rare manifestations of Gitelman syndrome

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Qi Chen ◽  
Xiaoyi Wang ◽  
Jingjing Min ◽  
Lin Wang ◽  
Lijun Mou
Keyword(s):  
Diabetic Nephropathy ◽  
Renal Biopsy ◽  
Kidney Stones ◽  
Early Stage ◽  
Renal Involvement ◽  
Serum Biochemistry ◽  
Gitelman Syndrome ◽  
Compound Heterozygous ◽  
Glomerular Proteinuria ◽  
History Of

Abstract Background Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing tubulopathy (SLT). Here, we describe, for the first time, a case of GS without Gitelman-like features and with concomitant kidney stones, cysts and diabetic nephropathy (DN). Case presentation We described a male patient had a 19-year history of recurrent fatigue. From childhood, he had polydipsia and polyuria, paroxysmal tetany and palpitation. Serum biochemistry revealed chronic hypokalemia, metabolic alkalosis, normomagnesemia, mildly elevated Cr. Concomitant 24 h urine collection showed inappropriate renal potassium wasting, borderline hypercalciuria, moderate proteinuria consisting of major glomerular. Ultrasound of urinary tract showed bilateral and multiple kidney stones and cysts. Whole exome sequencing (WES) identified compound heterozygous mutations of SLC12A3. The unusual association of SLTs and glomerular proteinuria prompted us to perform a renal biopsy. Renal pathology showed renal involvement consistent with GS and early stage of diabetic nephropathy (DN). After treatment with KCl, magnesium oxide, perindopril and acarbose, the patient had been cured. The fatigue didn’t relapse. Conclusion GS had high variability of phenotype, GS may have no Gitelman-like features, kidney stones are not the exclusion criteria of GS. Renal biopsy should be warranted for GS patients with moderate to massive glomerular proteinuria.

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.

scholarly journals Early Stage of Chronic Kidney Disease with Renal Injury Caused by Hypertension in a Dog

2011 ◽  
Vol 2011 ◽  
pp. 1-4
Author(s):  
Akira Yabuki ◽  
Keijiro Mizukami ◽  
Mariko Sawa ◽  
Sawane Mitani ◽  
Osamu Yamato
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Renal Biopsy ◽  
Renal Injury ◽  
Enzyme Inhibitor ◽  
Early Stage ◽  
Histopathological Analysis ◽  
History Of ◽  
Unilateral Mastectomy

A 10-year-old spayed female Papillon weighing 4.0 kg presented with a history of persistent hematuria and pollakiuria. Concurrent bladder calculi, a mammary gland tumor, and nonazotemic early stage of chronic kidney disease with contracted kidneys were noted in this dog. The dog underwent cystectomy, unilateral mastectomy, and intraoperative renal biopsy. On the basis of histopathological analysis of renal biopsy results, it was suspected that renal injury of the dog was caused by persistent hypertension, and a follow-up examination revealed severe hypertension. The dog was treated with a combination of an angiotensin-converting enzyme inhibitor and calcium channel blocker. The treatment produced a good outcome in the dog, and there has been no progression of the chronic kidney disease for over 2 years.

Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic nephropathy

Diabetes ◽  
1997 ◽  
Vol 46 (5) ◽  
pp. 882-886 ◽  
Author(s):  
D. W. Bowden ◽  
M. Sale ◽  
T. D. Howard ◽  
A. Qadri ◽  
B. J. Spray ◽  
...  
Keyword(s):  
Diabetic Nephropathy ◽  
Genetic Markers ◽  
Human Chromosomes ◽  
History Of ◽  
Sib Pairs

ABOUT THE PERIODIZATION AND CHRONOLOGY OF THE HISTORY OF TAURIC CHERSONESUS IN THE PRE-ROMAN AND THE LATE ANTIQUE PERIODS

2020 ◽  
Vol 6 (72) (3) ◽  
pp. 127-148
Author(s):  
S. V. Ushakov
Keyword(s):  
Scientific Literature ◽  
Early Stage ◽  
Late Antique ◽  
Ancient History ◽  
History Of ◽  
Transitional Time ◽  
Early Byzantine

Hundreds of scientific works are devoted to the study of the Tauric Chersonesus, but the problem of chronology and periodization of its ancient history is not sufficiently developed in historiography. Analysis of scientific literature and a number of sources concerning this subject allows to define the chronological framework and to reveal 10 stages of the history of ancient Chersonesos (as a preliminary definition). The early stage, the Foundation and formation of the Polis, is defined from the middle/last third of the VI century (or the first half of the V century BC) to the end of the V century BC. The end of the late-Antique − early-Byzantine (transitional) time in Chersonesos can be attributed to the second half of the VI – first third of the VII centuries ad).

HIGHER EDUCATION IN ANCIENT INDIA

2018 ◽  
Vol 6 (26) ◽  
Author(s):  
Satyendra Singh Chahar ◽  
Nirmal Singh
Keyword(s):  
Cultural History ◽  
Early Stage ◽  
University Education ◽  
Educational Institutions ◽  
Educational Method ◽  
Men And Women ◽  
Ancient India ◽  
Herbert Spencer ◽  
History Of ◽  
The Ideal

University education -on almost modern lines existed in India as early as 800 B.C. or even earlier. The learning or culture of ancient India was chiefly the product of her hermitages in the solitude of the forests. It was not of the cities. The learning of the forests was embodied in the books specially designated as Aranyakas "belonging to the forests." The ideal of education has been very grand, noble and high in ancient India. Its aimaccording to Herbert Spencer is the 'training for completeness of life' and ‘the molding o character of men and women for the battle of life’. The history of the educational institutions in ancient India shows a glorious dateline of her cultural history. It points to a long history altogether. In the early stage it was rural, not urban. British Sanskrit scholar Arthur Anthony Macdonell says "Some hundreds of years must have been needed for all that is found" in her culture. The aim of education was at the manifestation of the divinity in men, it touches the highest point of knowledge. In order to attain the goal the whole educational method is based on plain living and high thinking pursued through eternity.

scholarly journals PGNMID in a patient with diabetes mellitus

2021 ◽  
pp. 239936932098478
Author(s):  
Joana Marques ◽  
Patrícia Cotovio ◽  
Mário Góis ◽  
Helena Sousa ◽  
Fernando Nolasco
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Diabetic Nephropathy ◽  
Renal Disease ◽  
Renal Involvement ◽  
Organ Damage ◽  
Therapeutic Implications ◽  
Stage Renal Disease

Diabetic nephropathy is a well known complication of diabetes mellitus and the leader cause of end -stage renal disease worldwide. Nonetheless, other forms of renal involvement can occur in diabetic population. Since it has prognostic and therapeutic implications, differentiating non-diabetic renal disease from diabetic nephropathy is of great importance. We report an 80-year-old man with well-controlled type 2 diabetes mellitus and hypertension, who presented with rapid deterioration of renal function, nephrotic proteinuria, microscopic hematuria and leukocyturia. The atypical clinical presentation prompted us to perform a kidney biopsy. A diagnosis of proliferative glomerulonephritis with monoclonal immunoglobulin deposits (light chain only variant) was made, with however some chronic histological aspects which made us took a conservative therapeutic attitude. We emphasize that other causes of chronic proteinuric kidney disease should be considered in patients with type 2 diabetes mellitus, based on clinical suspicion, absence of other organ damage and mostly if an atypical presentation is seen. We review the spectrum of monoclonal gammopathies of renal significance, focusing on this rare and newly describe entity.

scholarly journals A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

2021 ◽  
Vol 22 (2) ◽  
pp. 889
Author(s):  
Ava Kwong ◽  
Cecilia Y. S. Ho ◽  
Vivian Y. Shin ◽  
Chun Hang Au ◽  
Tsun Leung Chan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca1 Gene ◽  
Pathogenic Mutation ◽  
Compound Heterozygous ◽  
Strong Family History ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Mutations ◽  
Increased Risk ◽  
History Of

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.

The diagnosis of early pneumoconiosis in dust-exposed workers: comparison of chest radiography and computed tomography

2021 ◽  
pp. 028418512110225
Author(s):  
Hideyuki Hayashi ◽  
Kazuto Ashizawa ◽  
Masashi Takahashi ◽  
Katsuya Kato ◽  
Hiroaki Arakawa ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Chest Radiography ◽  
Pulmonary Emphysema ◽  
Early Stage ◽  
Pathological Changes ◽  
Occupational History ◽  
Exposed Workers ◽  
History Of ◽  
Ct Data ◽  
Positive Results

Background Chest radiography (CR) is employed as the evaluation of pneumoconiosis; however, we sometimes encounter cases in which computed tomography (CT) is more effective in detecting subtle pathological changes or cases in which CR yields false-positive results. Purpose To compare CR to CT in the diagnosis of early-stage pneumoconiosis. Material and Methods CR and CT were performed for 132 workers with an occupational history of mining. We excluded 23 cases of arc-welder’s lung. Five readers who were experienced chest radiologists or pulmonologists independently graded the pulmonary small opacities on CR of the remaining 109 cases. We then excluded 37 cases in which the CT data were not sufficient for grading. CT images of the remaining 72 cases were graded by the five readers. We also assessed the degree of pulmonary emphysema in those cases. Results The grade of profusion on CR (CR score) of all five readers was identical in only 5 of 109 cases (4.6%). The CR score coincided with that on CT in 40 of 72 cases (56%). The CT score was higher than that on CR in 13 cases (18%). On the other hand, the CT score was lower than that on CR in 19 cases (26%). The incidence of pulmonary emphysema was significantly higher in patients whose CR score was higher than their CT score. Conclusion CT is more sensitive than CR in the evaluation of early-stage pneumoconiosis. In cases with emphysema, the CR score tends to be higher in comparison to that on CT.

scholarly journals THU0597 CORNEAL MELT - DON’T ALWAYS BLAME RHEUMATOID ARTHRITIS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 540.3-540
Author(s):  
A. Munir ◽  
C. Sheehy
Keyword(s):  
Rheumatoid Arthritis ◽  
Renal Biopsy ◽  
Systemic Vasculitis ◽  
Lower Lobe ◽  
Visual Outcome ◽  
Eye Drops ◽  
Poor Visual Outcome ◽  
Methyl Prednisolone ◽  
History Of ◽  
And Function

Background:Corneal melt is a rare inflammatory disease of the peripheral cornea; it may lead to perforation of the globe and visual failure. Corneal melt can be a manifestation of systemic vasculitis in patients with RA and other conditions, such as cancer. Without early and aggressive treatment it may be associated with a poor visual outcome and a high mortality. It has been reported in patients with stable RA.Objectives:A case report in a patient with long standing but well controlled Rheumatoid Arthritis (RA) and metastatic disease.Methods:A 75 year old male with a background of sero positive Rheumatoid Arthritis for more than 10 years presented to the Eye Casualty with a two week history of a painful left red eye. His other medical history was significant for Stage IIB poorly differentiated cancer of the left lower lobe. Left lower lobectomy with a patch of diaphragm resected. Intratumoural lymphovascular invasion noted. He completed Adjuvant Carboplatin/Vinorelbine chemotherapy September, 2017. He had DVT proximal left leg 22ndof September, 2017. Follow up CT in 2018 demonstrated a right renal upper pole lesion for which he was awaiting biopsy with?metastatic lung disease vs primary renal carcinoma. His RA was well controlled on Methotrexate 10mg weekly. He had been treated by the ophthalmology team for left marginal Keratitis for the prior 2 months with steroid eye drops without significant improvement. On presentation to ED, he described sharp eye pain, waking him from the sleep, associated with watery discharge and photophobia. Examination showed corneal melt in left eye involving 25% of inferior portion of the cornea and spastic entropion with injecting eye lashes. He had no active joints and there were no other signs of vasculitis. CRP was 4.1. He had a negative ANA and ANCA; viral swabs were negative. He was admitted under the medical team. Intravenous Methyl Prednisolone was started. The patient felt better after 5 days of Methyl Prednisolone. Left temporary tarsorrhaphy was done by Ophthalmology. Cyclophosphamide was initiated after discussion with Oncologist pending the result of the renal biopsy. Patient was discharged after 5 days of admission in the hospitalResults:The renal biopsy was positive for metastatic Squamous cell carcinoma of lung. Cyclophosphamide was withdrawn and he was started on Carboplatin/Gemcitabine. The corneal melt improved with complete resolution of his visual symptoms.Conclusion:In this case, although the history of RA was felt by the ophthalmology team to be the most likely association with the corneal melt, we would argue the oncological diagnoses were likely the driving force behind the presentation.References:[1]Sule A, Balakrishnan C, Gaitonde S, Mittal G, Pathan E, Gokhale NS, et al. Rheumatoid corneal melt. Rheumatology (Oxford)2002;41:705–6.[2]S. Yano, K. Kondo, M. Yamaguchi et al., “Distribution and function of EGFR in human tissue and the effect of EGFR tyrosine kinase inhibition,” Anticancer Research, vol. 23, no. 5, pp. 3639–3650, 2003.Disclosure of Interests:None declared

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