scholarly journals Cystinosis: A Rare Case Presentation

2015 ◽  
Vol 01 (01) ◽  
pp. 002-004
Author(s):  
Karan Hantodkar ◽  
Mahesh Mohite ◽  
Pankaj Deshpande
Keyword(s):  
Metabolic Acidosis ◽  
Rare Case ◽  
Fanconi Syndrome ◽  
Systemic Disease ◽  
Failure To Thrive ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Case Presentation

AbstractCystinosis is a systemic disease caused by defect in metabolism of Cystine. It typically presents as Fanconi syndrome with metabolic acidosis, polyuria, failure to thrive, glucosuria, phophaturia and aminoaciduria. Our patient did not display metabolic acidosis at presentation and had features suggesting Bartter's syndrome.

scholarly journals A case report of brain abscess caused by Nocardia farcinica

2021 ◽  
Vol 26 (1) ◽  
Author(s):  
Jiangqin Song ◽  
Lian Dong ◽  
Yan Ding ◽  
Junyang Zhou
Keyword(s):  
Mass Spectrometry ◽  
Brain Abscess ◽  
Antibiotic Treatment ◽  
Rare Case ◽  
Distress Syndrome ◽  
Surgical Intervention ◽  
Systemic Disease ◽  
Immunocompromised Patients ◽  
Case Presentation ◽  
Nocardia Farcinica

Abstract Background Brain abscess due to the Nocardia genus is rarely reported and it is usually found in immunocompromised patients. Treatment of Nocardia brain abscess is troublesome and requires consideration of the severity of the underlying systemic disease. The difficulties in identifying the bacterium and the frequent delay in initiating adequate therapy often influence the prognosis of patients. Case presentation Here, we report a rare case of brain abscess caused by Nocardia farcinica. The patient’s medical history was complicated: he was hospitalized several times, but no pathogens were found. At last, bacteria were found in the culture of brain abscess puncture fluid; the colony was identified as Nocardia farcinica by mass spectrometry. Targeted antibiotic treatment was implemented, brain abscess tended to alleviate, but the patient eventually developed fungal pneumonia and died of acute respiratory distress syndrome (ARDS). Conclusion Brain abscess caused by Nocardia farcinica can appear in non-immunocompromised individuals. Early diagnosis, reasonable surgical intervention, and targeted antibiotic treatment are critical for Nocardia brain abscess treatment. In the treatment of Nocardia brain abscess, attention should paid be to the changes in patients’ immunity and infection with other pathogens, especially fungi, avoided.

scholarly journals A Dead Case Report From Brain Abscess Caused by Nocardia Farcinica

2021 ◽  
Author(s):  
Jiangqin Song ◽  
Lian Dong ◽  
Yan Ding ◽  
Junyang Zhou
Keyword(s):  
Mass Spectrometry ◽  
Brain Abscess ◽  
Antibiotic Treatment ◽  
Rare Case ◽  
Distress Syndrome ◽  
Surgical Intervention ◽  
Systemic Disease ◽  
Immunocompromised Patients ◽  
Case Presentation ◽  
Nocardia Farcinica

Abstract Background: Brain abscess due to the Nocardia genus is rarely reported and it is usually found in immunocompromised patients. Treatment of Nocardia brain abscess is troublesome and requires consideration of the severity of the underlying systemic disease. The difficulties in identifying the bacterium and the frequent delay in initiating adequate therapy often influence the prognosis of patients.Case presentation: Here, we report a rare case of brain abscess caused by Nocardia farcinica. The patient’s medical history was complicated, he was hospitalized for several times, but no pathogens were found. At last, bacterial was found in culture of brain abscess puncture fluid, the colony was identified as Nocardia farcinica by mass spectrometry. Targeted antibiotic treatment was implemented, brain abscess tended to alleviate, but the patient eventually developed fungal pneumonia and died of acute respiratory distress syndrome (ARDS). Conclusion: brain abscess caused by Nocardia farcinica can be appear in non-immunocompromised individuals. Early diagnosis, reasonable surgical intervention, and targeted antibiotic treatment are critical for Nocardia brain abscess treatment. In the treatment of Nocardia brain abscess, we should pay attention to the changes of patients' immunity and avoid infection with other pathogens, especially fungi.

scholarly journals Successful Treatment of Short Stature and Delayed Puberty in Congenital Magnesium-Losing Kidney

1993 ◽  
Vol 30 (5) ◽  
pp. 494-498 ◽  
Author(s):  
A J Taylor ◽  
T L Dornan
Keyword(s):  
Short Stature ◽  
Renal Tubule ◽  
Failure To Thrive ◽  
Juxtaglomerular Apparatus ◽  
Tubular Reabsorption ◽  
Delayed Puberty ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Uncommon Disease ◽  
Biochemical Abnormalities

Bartter's syndrome is a well described but uncommon disease characterized by hypokalaemia and hyperplasia of the juxtaglomerular apparatus of the kidney. It may present in infancy with failure to thrive and muscle weakness; it commonly causes short stature. Lesions at different sites within the renal tubule have been proposed as the cause of the syndrome. However, the biochemical abnormalities in many cases can be explained by defective reabsorption of chloride in the ascending loop of Henle, with loss of sodium and water and a secondary increase in renin and aldosterone concentrations. Less severe cases have been described which present in adolescence and have tetany as a prominent feature. Primary renal loss of magnesium associated with potassium wasting has been described in such cases and it has been suggested that these can be distinguished from classical Bartter's syndrome by hypocalciuria. This less well characterized disease has been named Welt, Gitelman-Welt or Gitelman syndrome and may include deficient tubular reabsorption of chloride, but the sites of magnesium and potassium loss in the kidney are uncertain. We describe a patient with this syndrome who presented with short stature, delayed puberty and tetany and responded well to magnesium replacement.

scholarly journals Severe polyhydramnios as neonatal presentation of Bartter’s syndrome type IV

2021 ◽  
Vol 21 (2) ◽  
pp. 679-684
Author(s):  
Mariana Alvarenga Hoesen Doutel Coroado ◽  
Joana Manuel Silva Fernandes Lopes Tavares ◽  
António Gonçalo Inocêncio Vila Verde ◽  
Maria do Céu Pinhão Pina Rodrigues ◽  
Liane Maria Correia Rodrigues da Costa Nogueira Silva ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Sensorineural Deafness ◽  
Failure To Thrive ◽  
Normal Karyotype ◽  
Fetal Malformation ◽  
Syndrome Type ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Type Iv ◽  
Autosomal Recessive Diseases

Abstract Introduction: Bartter’s syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type. Types I and II account for most of the neonatal cases. Types III and V are usually less severe. Characteristically Bartter’s syndrome type IV is a saltlosing nephropathy with mild to severe neonatal symptoms, with a specific feature - sensorineural deafness. Bartter’s syndrome type IV is the least common of all recessive types of the disease. Description: the first reported case of a Portuguese child with neurosensorial deafness, polyuria, polydipsia and failure to thrive, born prematurely due to severe polyhydramnios, with the G47R mutation in the BSND gene that causes Bartter’s syndrome type IV. Discussion: there are few published cases of BS type IV due to this mutation and those reported mostly have moderate clinical manifestations which begin later in life. The poor phenotype-genotype relationship combined with the rarity of this syndrome usually precludes an antenatal diagnosis. In the presence of a severe polyhydramnios case, with no fetal malformation detected, normal karyotype and after maternal disease exclusion, autosomal recessive diseases, including tubulopathies, should always be suspected.

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

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.

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