scholarly journals Antenatal diagnosis of microvillus inclusion disease

2021 ◽  
Vol 12 (4) ◽  
pp. 265-267
Author(s):  
Gular Israfilova ◽  
Banu Arslanca ◽  
Yavuz Emre Sukur ◽  
Acar Koç
Keyword(s):  
Antenatal Diagnosis ◽  
Hirschsprung Disease ◽  
Autosomal Recessive Disorder ◽  
Watery Diarrhea ◽  
Apical Surface ◽  
Jejunoileal Atresia ◽  
Congenital Chloride Diarrhea ◽  
Gestational Week ◽  
Anorectal Atresia ◽  
Rule Out

Microvillus inclusion disease is a rare autosomal recessive disorder due to defective apical surface of the enterocytes presenting with severe watery diarrhea starting at birth. We describe a female infant who had antenatal diagnosis of microvillus inclusion disease. At 36th gestational week of a 32-year-old woman ultrasound examination revealed dilatation of fetal sigmoid colon. The amniotic fluid level was normal. An amniocentesis was performed to rule out congenital sodium and chloride diarrhea in the prenatal period. The patient didn't prefer to undergo genetic tests. In conclusion, prenatal ultrasonographic identification of dilated bowel loops without polyhydramnios suggests differential diagnosis of microvillus inclusion disease in addition to congenital chloride diarrhea, jejunoileal atresia, volvulus, meconium ileus, Hirschsprung disease, enteric duplications, anorectal atresia.

scholarly journals Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea

2018 ◽  
Vol 08 (01) ◽  
pp. 024-026 ◽  
Author(s):  
Olga Liaugaudiene ◽  
Dalia Stoniene ◽  
Ruta Kucinskiene ◽  
Christophe Buffat ◽  
Virginija Asmoniene
Keyword(s):  
Rare Disease ◽  
Molecular Genetic ◽  
Electrolyte Imbalance ◽  
Secretory Diarrhea ◽  
Watery Diarrhea ◽  
Founder Mutations ◽  
Adequate Treatment ◽  
Surgical Interventions ◽  
Congenital Chloride Diarrhea ◽  
Long Term Prognosis

AbstractCongenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term prognosis of properly managed CCD is favorable. We present a case of complicated CCD with necrotizing enterocolitis. The child was born to nonconsanguineous parents of Lithuanian origin. CCD was suspected due to watery diarrhea, progressive hypochloremia, and high fecal chlorides. Despite oral electrolytes being prescribed, volvulus of small intestine developed requiring several surgical interventions. The clinical diagnosis of CCD was confirmed by molecular genetic testing of SLC26A3, which revealed two Polish founder mutations in the DNA of the patient. The prevalence of CCD in Lithuanian neighbor Poland is approximately 1 in 200,000 live births. This is the first described case of CCD in Lithuania to our knowledge, leading to the suggestion that this disease may be underdiagnosed.

scholarly journals Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea

2019 ◽  
Vol 09 (01) ◽  
pp. 044-047
Author(s):  
Etna Masip ◽  
Ester Donat ◽  
Begoña Polo ◽  
Silvestre Oltra ◽  
Pedro Ortega ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Analysis ◽  
Cystic Fibrosis Patient ◽  
Metabolic Alkalosis ◽  
Intravenous Fluids ◽  
Extended Study ◽  
Treatment Patient ◽  
Congenital Chloride Diarrhea ◽  
Accurate Treatment ◽  
Rule Out

AbstractMetabolic alkalosis is uncommon in infancy. Cystic fibrosis (CF) patients can develop dehydration because of sweat salt or gastrointestinal losses; with the correct salt supplementation, the electrolyte alterations can be reversed. Here, we present a CF patient with recurrent metabolic alkalosis, initially oriented as pseudo-Bartter's syndrome. However, despite accurate treatment, patient needed daily intravenous fluids to maintain homeostasis. An extended study was made, including a urine study that could rule out Bartter's diagnosis. Finally, after a complementary test that included electrolyte stools study and genetic analysis, congenital chloride diarrhea could be diagnosed.

123I-FP-CIT Brain SPECT Findings in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

2020 ◽  
Vol 13 ◽  
Author(s):  
Viviana Frantellizzi ◽  
Mariano Pontico ◽  
Arianna Pani ◽  
Maria Silvia De Feo ◽  
Giuseppe De Vincentis
Keyword(s):  
Autosomal Recessive ◽  
Brain Mri ◽  
Autosomal Recessive Disorder ◽  
Brain Spect ◽  
Lower Limbs ◽  
Succinic Semialdehyde ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Ssadh Deficiency ◽  
Rule Out

Background: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder. Neuroimaging findings are commonly considered rather non-specific. To date, no neuroreceptorial brain imaging with 123I-FP-CIT(DaTScan) is known in subjects with SSADH deficiency. Methods: A 30-year-old man was referred to our attention to rule out any potential nigrostriatal dopaminergic presynaptic pathway alterations in a clinical context of a γ-hydroxybutyric aciduria. He showed impossibility to the autonomous gait, head and trunk retropulsion, lower limbs strength deficit, verbal and upper limbs motor stereotypies and irregular eye tracking. Results: Brain MRI depicted basal ganglia signal abnormalities. Brain SPECT with DaTSCan images showed a global significant reduction of radiotracer uptake. Conclusions: The findings obtained by means of the 123I-DaTScan brain SPECT may give rise to new concerns on pathophysiological aspects of the SSADH deficiency disorder that has never been investigated before, such as the nigrostriatal dopaminergic system functionality, encouraging further investigation.

scholarly journals Glucosylceramide Critically Contributes to the Host Defense of Cystic Fibrosis Lungs

2017 ◽  
Vol 41 (3) ◽  
pp. 1208-1218 ◽  
Author(s):  
Barbara Kovacic ◽  
Carolin Sehl ◽  
Barbara Wilker ◽  
Markus Kamler ◽  
Katrin Anne Becker ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Pseudomonas Aeruginosa ◽  
Severe Pneumonia ◽  
Autosomal Recessive Disorder ◽  
Bactericidal Effect ◽  
Apical Surface ◽  
Pulmonary Infections

Background: Cystic fibrosis (CF) is the most common autosomal-recessive disorder in western countries. Previous studies have demonstrated an important role of sphingolipids in the pathophysiology of cystic fibrosis. It has been shown that ceramide has a central role in various pulmonary infections, including those with Pseudomonas aeruginosa (P. aeruginosa). Ceramide is accumulated in the airways of CF mice and patients. However, little is known about a potential role of glucosylceramide in cystic fibrosis. Methods: We investigated the expression of glucosylceramide and lactosylceramide in the respiratory tract of murine and human CF samples by immunohistochemistry and analyzed effects of glucosylceramide on P. aeruginosa in vitro. We performed pulmonary infections with P. aeruginosa and tested inhalation with glucosylceramide. Results: We demonstrate that glucosylceramide is down-regulated on the apical surface of bronchial and tracheal epithelial cells in cystic fibrosis mice. Although glucosylceramide did not have a direct bactericidal effect on Pseudomonas aeruginosa in vitro, inhalation of CF mice with glucosylceramide protected these mice from infection with P. aeruginosa, while non-inhaled CF mice developed severe pneumonia. Conclusion: Our data suggest that glucosylceramide acts in vivo in concert with ceramide and sphingosine to determine the pulmonary defense against P. aeruginosa.

Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency

2020 ◽  
Vol 33 (8) ◽  
pp. 1051-1056 ◽  
Author(s):  
Adlyne Reena Asirvatham ◽  
Karthik Balachandran ◽  
Packiamary Jerome ◽  
Vettriselvi Venkatesan ◽  
Teena Koshy ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Genetic Characteristics ◽  
Delay In Diagnosis ◽  
Genital Ambiguity ◽  
Uncommon Condition ◽  
Rule Out

AbstractObjectivesCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, that could rarely be due to 17 α-hydroxylase deficiency (17αOHD) and/or 17,20 lyase deficiency. Mutation of CYP17A1 gene causes deficiency of glucocorticoids and androgens but excess of mineralocorticoids. Lack of genital ambiguity in most children causes a delay in diagnosis even until puberty. Classical presentation with hypertension and hypokalemia is often not encountered. We intended to study the clinical, biochemical and genetic characteristics of children diagnosed with CAH due to 17αOHD.MethodsThree children who were diagnosed with CAH due to 17αOHD in our institute and on follow up were included in this retrospective study. Clinical, biochemical and genetic characteristics of these children were retrieved and studied from electronic medical records.ResultsTwo children were genetic females and one was genetic male, but all three were raised as females. All had hypertension at diagnosis except one but none had hypokalemia. All of them had mutation in the CYP17A1 gene. The two females responded well to oestrogen and progesterone and had adequate estrogenization clinically.ConclusionsEven though CAH due to 17αOHD is quite rare, it should be considered while evaluating young individuals with hypogonadism, hypertension with or without hypokalemia. Lack of genital ambiguity and absence of classical signs at presentation does not rule out this not so uncommon condition and warrants follow up.

scholarly journals Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report

2021 ◽  
Vol 9 ◽  
Author(s):  
Izabela Cendal ◽  
Agnieszka Szafrańska ◽  
Tomasz Fuchs ◽  
Dariusz Patkowski ◽  
Robert Smigiel ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Preterm Labor ◽  
Metabolic Alkalosis ◽  
Abdominal Distension ◽  
Watery Diarrhea ◽  
Recessive Mutation ◽  
Stool Examination ◽  
Severe Diarrhea ◽  
Congenital Chloride Diarrhea ◽  
Median Laparotomy

Congenital chloride diarrhea (CCD) is caused by a recessive mutation in the SLC26A3 gene and characterized mainly by watery diarrhea, hypochloremia and metabolic alkalosis. Various different mutations in SLC26A3 are responsible for the disease. In the prenatal period, the symptoms of CCD may include polyhydramnios, preterm labor and abdominal distension. The main feature of CCD is chloride-rich diarrhea, which leads to excessive loss of fluid and salt immediately after birth and is followed by weight loss and dehydration. Hyponatremia and hypochloremia are soon accompanied by hypokalemia and metabolic alkalosis. Untreated CCD is fatal even in the first weeks of life. Diagnosis is made by high fecal chloride concentrations in patients with serum electrolytes corrected by salt substitution and confirmed using genetic testing of peripheral blood samples. Here, we detail prenatal and postnatal manifestations of a preterm infant, born via Caesarian section, who was suspected to suffer intrauterine bowel obstruction. Upper median laparotomy was performed and no intestinal abnormalities found. The course of the neonatal period was complicated by severe diarrhea with hypochloremia, hyponatremia and metabolic alkalosis. Based on the patient's clinical picture and stool examination, a diagnosis of CCD was established. Mutation of the SLC26A3 gene was confirmed using genetic testing.

scholarly journals Antenatal Diagnosis of Hirschsprung Disease

2014 ◽  
Vol 1 (2) ◽  
pp. 99-101 ◽  
Author(s):  
Ashutosh Gupta ◽  
Anjila Aneja ◽  
Sanjay Mehta ◽  
Tauqeer Syed Fazal
Keyword(s):  
Antenatal Diagnosis ◽  
Hirschsprung Disease

scholarly journals Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
C. Gils ◽  
M.-C. Eckhardt ◽  
P. E. Nielsen ◽  
M. Nybo
Keyword(s):  
Clinical Symptoms ◽  
Chloride Concentration ◽  
Autosomal Recessive Disorder ◽  
Abdominal Distension ◽  
Blood Gas ◽  
Dna Testing ◽  
Gas Analyzer ◽  
Intravenous Glucose ◽  
Congenital Chloride Diarrhea ◽  
Blood Gas Analyzer

Background.Congenital chloride diarrhea (CCD) is an autosomal recessive disorder caused by mutations in the genes encoding the intestinal Cl−/HCO3-exchanger and is clinically characterized by watery, profound diarrhea, electrolyte disturbances, and metabolic alkalosis. The CCD diagnosis is based on the clinical symptoms and measurement of high chloride concentration in feces (>90 mmol/L) and is confirmed by DNA testing. Untreated CCD is lethal, while long-term clinical outcome improves when treated correctly.Case Presentation. A 27-year-old woman had an emergency caesarian due to pain and discomfort in gestational week 36 + 4. The newborn boy had abdominal distension and yellow fluid per rectum. Therapy with intravenous glucose and sodium chloride decreased his stool frequency and improved his clinical condition. A suspicion of congenital chloride diarrhea was strongly supported using blood gas analyzer to measure an increased chloride concentration in the feces; the diagnosis was confirmed by DNA testing.Discussion. Measurement of chloride in feces using an ordinary blood gas analyzer can serve as a preliminary analysis when congenital chloride diarrhea is suspected. This measurement can be easily performed with a watery feces composition. An easy-accessible chloride measurement available will facilitate the diagnostics and support the initial treatment if CCD is suspected.

A Study on the Fine Structure of the Lateral Line Organ of the Sea Eel

1973 ◽  
Vol 31 ◽  
pp. 648-649
Author(s):  
K. Hama
Keyword(s):  
Fine Structure ◽  
Electron Microscope ◽  
Lateral Line ◽  
Low Frequency ◽  
Sensory Cells ◽  
Apical Surface ◽  
Voltage Electron ◽  
Sensory Epithelia ◽  
Low Frequency Vibration ◽  
Transmission Electron

The lateral line organs of the sea eel consist of canal and pit organs which are different in function. The former is a low frequency vibration detector whereas the latter functions as an ion receptor as well as a mechano receptor.The fine structure of the sensory epithelia of both organs were studied by means of ordinary transmission electron microscope, high voltage electron microscope and of surface scanning electron microscope.The sensory cells of the canal organ are polarized in front-caudal direction and those of the pit organ are polarized in dorso-ventral direction. The sensory epithelia of both organs have thinner surface coats compared to the surrounding ordinary epithelial cells, which have very thick fuzzy coatings on the apical surface.

Organization of tight junctions in the choroid plexus epithelium

1978 ◽  
Vol 36 (2) ◽  
pp. 336-337
Author(s):  
B. Van Deurs ◽  
J. K. Koehler
Keyword(s):  
Choroid Plexus ◽  
Present Report ◽  
Freeze Fracture ◽  
Barrier Properties ◽  
Cell Junctions ◽  
Structural Basis ◽  
Apical Surface ◽  
Choroid Plexus Epithelium ◽  
Solid Nitrogen ◽  
Special Composition

The choroid plexus epithelium constitutes a blood-cerebrospinal fluid (CSF) barrier, and is involved in regulation of the special composition of the CSF. The epithelium is provided with an ouabain-sensitive Na/K-pump located at the apical surface, actively pumping ions into the CSF. The choroid plexus epithelium has been described as “leaky” with a low transepithelial resistance, and a passive transepithelial flux following a paracellular route (intercellular spaces and cell junctions) also takes place. The present report describes the structural basis for these “barrier” properties of the choroid plexus epithelium as revealed by freeze fracture.Choroid plexus from the lateral, third and fourth ventricles of rats were used. The tissue was fixed in glutaraldehyde and stored in 30% glycerol. Freezing was performed either in liquid nitrogen-cooled Freon 22, or directly in a mixture of liquid and solid nitrogen prepared in a special vacuum chamber. The latter method was always used, and considered necessary, when preparations of complementary (double) replicas were made.

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