Lowe Syndrome Literature Review And Case Report

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The bone disease may appear as classic changes of rickets on bone radiographs. Recommendations
were framed using the approach described by the Guidelines Oversight Committee of the American
College of Chest Physicians. Other cases result from new mutations in the gene and occur in males
with no history of the disorder in their family. RELATED TOPICS Medicine Modern Medicine See
Full PDF Download PDF About Press Blog People Papers Topics Job Board We're Hiring. Lowe
syndrome prognosis Currently, there is no correlation between the genotype and phenotypes, so
clinical severity of disease cannot be correlated with certain variants. Peer Reviewer for The Journal
of American College of Cardiology, Europace and American Journal of Cardiology. To browse
Academia.edu and the wider internet faster and more securely, please take a few seconds to upgrade
your browser. This may be an important consideration with any surgery but especially both cataract
surgery and glaucoma surgery in which bleeding inside the eye may have considerable consequences.
The articles available in the literature are concerned only with reporting the clinical manifestations;
none address treatment. Available from: Cau M, Addis M, Congiu R, Meloni C, Cao A, Santaniello
S, Loi M, Emma F, Zuffardi O, Ciccone R, Sole G, Melis MA. Most individuals learn to
communicate verbally to some extent by age seven years; some eventually become quite verbal 6.
These growths are progressive and can lead to blindness. A characteristic of X-linked inheritance is
that fathers cannot pass X-linked traits to their sons. Feeding difficulties in infancy associated with
poor head control, sucking, or swallowing may be a consequence of the hypotonia. Strabismus,
retinal dystrophy, secondary corneal scarring, and calcific band keratopathy with keloid formation 5
may cause additional visual impairment 4. The features of symptomatic Fanconi syndrome do not
usually become manifest until after the first few months of life, except for low molecular-weight
(low molecular-weight) proteinuria. Case Report and Review of the Literature Lung Cancer and
Paraneoplastic Neurologic Syndromes. Bursitis is inflammation or irritation of a bursa sac. A
condition is considered X-linked if the mutated gene that causes the disorder is located on the X
chromosome, one of the two sex chromosomes. Bursitis is inflammation or irritation of a bursa sac.
You can search by name, distance from an address, province, or services. However antibodies against
neuronal intracellular structures have been described, and this process seems to be T-cell mediated.
In a background of bilateral progressive cataracts, convulsions, generalised. Few of these boys have
renal glucose wasting, which is frequently observed in other diseases with full-spectrum renal
Fanconi syndrome 11. Most X-linked disorders affect males much more frequently than females. The
panel reappraised the 2004 criteria alongside new knowledge on PNS obtained from published and
unpublished data generated by the different laboratories involved in the project.ResultsThe panel
proposed to substitute “classical syndromes” with the term “high-risk phenotypes” for cancer and
introduce the concept of “intermediate-risk phenotypes.” The term “onconeural antibody” was
replaced by “high ri. Superficial cysts may occur in the mouth and on the skin, especially the scalp,
lower back and buttocks.The skin cysts may become painful and occasionally infected. Bone disease
Bone disease in affected boys may be related to Fanconi syndrome with phosphaturia, inadequate
renal production of 1,25-dihydroxyvitamin D, and chronic acidosis as well as chronic kidney
disease. Male infants with Lowe syndrome are born with thick clouding of the lenses in both eyes
(congenital cataracts), often with other eye abnormalities that can impair vision. The features of
symptomatic Fanconi syndrome do not usually become manifest until after the first few months of
life, except for low molecular-weight proteinuria.
This abnormality results in the loss of certain substances (amino acids, bicarbonates, and phosphates)
into the urine that are normally filtered prior to excretion into the urine or reabsorbed by the body.
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe
syndrome. Clinical and laboratory findings in the oculocerebrorenal syndrome of Low, with special
reference to growth and renal function. See Full PDF Download PDF See Full PDF Download PDF
See Full PDF Download PDF Loading Preview Sorry, preview is currently unavailable. The panel
reappraised the 2004 criteria alongside new knowledge on PNS obtained from published and
unpublished data generated by the different laboratories involved in the project.ResultsThe panel
proposed to substitute “classical syndromes” with the term “high-risk phenotypes” for cancer and
introduce the concept of “intermediate-risk phenotypes.” The term “onconeural antibody” was
replaced by “high ri. The lens findings have correlated with the results of molecular genetic studies in
predicting heterozygosity for the pathogenic variant in OCRL in postpubertal females 4. Resources
for locating a genetics professional in your community are available online: The National Society of
Genetic Counselors ( ) offers a searchable directory of genetic counselors in the United States and
Canada. Some never walk, requiring the use of a wheelchair for mobility 6. Ectopic eruption was
observed anteriorly in the mandibular arch, probably as a result of the patient’s excessive anterior
crowding. However, even in the presence of well-corrected Fanconi syndrome and no findings of
rickets, some boys have repeat pathologic bone fractures with poor healing and bone
demineralization on radiographs or bone densitometry. You can search by name, distance from an
address, province, or services. Short stature Although birth length is usually normal, linear growth
velocity is below normal and short stature becomes evident by age one year. The oculocerebrorenal
syndrome of Lowe (Lowe syndrome). The manifestations of Lowe syndrome besides those seen in
the lens are not observed in heterozygous females unless there is either rare X;autosome translocation
with the X chromosome breakpoint at OCRL or extremely skewed X inactivation. Bleeding
disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary
haemostasis disorders. Hypotonia may slowly improve with age, but neither normal motor tone nor
strength is ever achieved. In older individuals, death has been related to progressive renal failure or
scoliosis. Here, we propose updated diagnostic criteria for PNS.MethodsA panel of experts
developed by consensus a modified set of diagnostic PNS criteria for clinical decision making and
research purposes. Almost all affected males have some degree of intellectual impairment. A few
affected females with the clinical manifestations of Lowe syndrome have been reported 2. Bursitis is
inflammation or irritation of a bursa sac. In a background of bilateral progressive cataracts,
convulsions, generalised. The etiology is related to malfunctioning of the OCRL1 gene on the X-
chromosome, resulting in a deficiency of an enzyme called phosphatidylinositol 4,5-biphosphate.
Lowe syndrome is diagnosed when a reduced activity of the phosphatidylinositol polyphosphate 5-
phosphatase OCRL enzyme is demonstrated in cultured skin cells (fibroblasts). Oral phosphate and
oral calcitriol are used to treat (or prevent) rickets. Infantile glaucoma, present in approximately 50%
of affected males, is difficult to control and often results in buphthalmos (enlarged eyes) and
progressive visual loss 4. Symptomatic paraneoplastic neurologic syndromes (PNSs) are rare,
affecting only 0.01% of patients with cancer, although they are more frequent in association with
specific malignancies. The articles available in the literature are concerned only with reporting the
clinical manifestations; none address treatment. Surveillance Intraocular pressure monitoring every
six months for life, other eye evaluations at intervals determined by specialist; at least annual
assessment of kidney function, growth, developmental progress; annual evaluation for scoliosis and
joint problems; semiannual dental examinations. Kidney failure is slow and progressive and results in
a reduced life expectancy of approximately 30-40 years.
The teeth were aligned and leveled with a fixed orthodontic appliance. So, at the end of history of
current illness, we have a 16 year old boy with. Gonadotrophin abnormalities in an infant with Lowe
syndrome. The precise pathophysiologic mechanisms remain to be defined, although a proportion are
thought to be immune mediated, involving the production of antibodies against neuronal surface
antigens. Glomerulosclerosis associated with chronic tubular injury usually results in slowly
progressive chronic renal failure and end-stage renal disease between the second and fourth decades
of life. A condition is considered X-linked if the mutated gene that causes the disorder is located on
the X chromosome, one of the two sex chromosomes. These kidney problems lead to increased
urination, dehydration, and abnormally acidic blood (metabolic acidosis). We report a 5-year-old boy
who presented with inability to walk during induction chemotherapy for acute lymphoblastic
leukemia. The features of symptomatic Fanconi syndrome do not usually become manifest until after
the first few months of life, except for low molecular-weight proteinuria. The OCRL gene provides
instructions for making an enzyme that helps modify fat (lipid) molecules called membrane
phospholipids. Prolonged or delayed bleeding following surgery, such as cataract extraction has been
reported. However, affected males within the same family have similar phenotypes, as intrafamilial
variability has not yet been reported 21. It has been shown that 42% of lung cancer patients are
diagnosed with cancer-related neurological complications either at initial presentation or at follow-up
and metastatic disease (intracranial and spinal lesions) and paraneoplastic syndromes are the most
important of these complications (1). Boys with Lowe syndrome should be monitored regularly for
vision problems (especially later onset glaucoma), kidney function, growth, developmental progress,
scoliosis, and joint problems, and dental problems. End-stage renal disease has been treated
successfully with dialysis and kidney transplantation in some late-adolescent adult men.
Symptomatic paraneoplastic neurologic syndromes (PNSs) are rare, affecting only 0.01% of patients
with cancer, although they are more frequent in association with specific malignancies. The normal
activity of the Golgi apparatus, which is regulated by this enzyme, is compromised in patients with
Lowe syndrome. Early proximal tubular dysfunction in Lowe’s syndrome. The American College of
Medical Genetics and Genomics ( ) has a searchable database of medical genetics clinic services in
the United States. Elevated serum creatine kinase (CK), AST, and LDH are typical in Lowe
syndrome and likely due to abnormal muscle metabolism 9. It was first described by Dr Charles
Lowe et al in 1952. Teeth and skin findings Dental malformations and generalized mobility of
primary teeth with decreased or dysplastic dentin formation may also be related to a primary dental
abnormality in Lowe syndrome 16. These changes typically do not impair vision. Figure 1. Lowe
syndrome X-linked inheritance pattern People with specific questions about genetic risks or genetic
testing for themselves or family members should speak with a genetics professional. A loss of salts
and nutrients may also impair growth and result in soft, bowed bones (hypophosphatemic rickets),
especially in the legs. Bartholin cyst 5. Spinal cord 6. How to get rid of scabies 7. Other
musculoskeletal concerns Decreased truncal motor tone increases the risk of developing scoliosis,
present in approximately 50% of affected boys 6. The manifestations of Lowe syndrome besides
those seen in the lens are not observed in heterozygous females unless there is either rare X;autosome
translocation with the X chromosome breakpoint at OCRL or extremely skewed X inactivation.
Some patients have shown a delayed bleeding diathesis following surgery characterized by normal
hemostasis and clot formation, only to be followed a few hours later by sudden recurrence of
bleeding. Pseudophakia with PCO (Posterior Capsular Opacity) present. Progressive kidney problems
in older children and adults with Lowe syndrome can lead to life-threatening renal failure and end-
stage renal disease (ESRD). See Full PDF Download PDF See Full PDF Download PDF See Full
PDF Download PDF Loading Preview Sorry, preview is currently unavailable.
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Lowe syndrome females Approximately 95% of postpubertal heterozygous females have
characteristic findings in the lens of each eye on slit lamp examination through a dilated pupil by an
experienced ophthalmologist. Lowe syndrome prognosis Currently, there is no correlation between
the genotype and phenotypes, so clinical severity of disease cannot be correlated with certain
variants. Puberty may be delayed in onset; otherwise, male secondary sexual development is normal.
Some never walk, requiring the use of a wheelchair for mobility 6. This abnormality results in the
loss of certain substances (amino acids, bicarbonates, and phosphates) into the urine that are normally
filtered prior to excretion into the urine or reabsorbed by the body. It also includes an assessment of
the impact of timeliness of care and multidisciplinary teams on outcome. So, at the end of history of
current illness, we have a 16 year old boy with. Decreased plasma carnitine concentration has been
reported in approximately one third of individuals with Lowe syndrome 13, but the need for or
efficacy of carnitine supplementation has never been studied, and therapy continues to be
individualized. Occasionally, violent tantrums or aggressive and self-abusive behaviors occur 7.
Lowe syndrome has been reported in North and South America, Europe, Japan, and India. Early
removal of cataracts is recommended to promote optimum development of vision. The combination
of ocular (neonatal-onset cataracts, glaucoma, and nystagmus), central nervous system (severe
psychomotor retardation and hypotonia), and renal (proteinuria, generalized aminoaciduria, and
acidosis) manifestations is usually required for identification of this disorder. The Metabolic and
Molecular Bases of Inherited Disease. 8 ed. Chap 252. New York, NY: McGraw-Hill; 2001:6257-66.
Bursitis is inflammation or irritation of a bursa sac. Bilateral kidneys appear small in size with loss of
cortico-medullary differenciation. Approximately 95% of carrier females older than 10 years of age
have specific and distinctive abnormalities of the lens of the eye that can be diagnosed by an
experienced ophthalmologist. These kidney problems lead to increased urination, dehydration, and
abnormally acidic blood (metabolic acidosis). Independent ambulation occurs in approximately 25%
of boys between age three and six years and in 75% by age six to 13 years. With decreased visual
acuity, nystagmus develops early in life, even with early and uncomplicated surgery. The content on
this website is intended for informational and educational purposes only. Long-term renal outcome
in children with OCRL mutations: retrospective analysis of a large international cohort. Other cases
result from new mutations in the gene and occur in males with no history of the disorder in their
family. Isolated LH elevation at baseline and on GnRH stimulation testing was observed in an infant
with undescended testes 15. The features of symptomatic Fanconi syndrome do not usually become
manifest until after the first few months of life, except for low molecular-weight proteinuria.
Affected males have renal Fanconi syndrome with low molecular-weight proteinuria, aminoaciduria,
bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal
rickets, hypercalciuria, sodium and potassium wasting, and polyuria. Case Report and Review of the
Literature Lung Cancer and Paraneoplastic Neurologic Syndromes. Few of these boys have renal
glucose wasting, which is frequently observed in other diseases with full-spectrum renal Fanconi
syndrome 11. Some paraneoplastic syndromes respond to treatment of the underlying cancer or to
immunosuppression but, for most syndromes, no effective treatment exists. The panel reappraised the
2004 criteria alongside new knowledge on PNS obtained from published and unpublished data
generated by the different laboratories involved in the project.ResultsThe panel proposed to
substitute “classical syndromes” with the term “high-risk phenotypes” for cancer and introduce the
concept of “intermediate-risk phenotypes.” The term “onconeural antibody” was replaced by “high ri.
Remark: Efforts to improve timeliness should be balanced with the need to attend to other
dimensions of Background: This guideline is intended to provide an evidence-based approach to the
initial evaluation of patients with known or suspected lung cancer. You can download the paper by
clicking the button above. Symptomatic paraneoplastic neurologic syndromes (PNSs) are rare,
affecting only 0.01% of patients with cancer, although they are more frequent in association with
specific malignancies. Although present at birth, the cataracts may not be detected until a few weeks
of life. These kidney problems lead to increased urination, dehydration, and abnormally acidic blood
(metabolic acidosis). Work-role of Radiation Therapists in the Consequences of Adaptive
Radiotherap. The manifestations of Lowe syndrome besides those seen in the lens are not observed
in heterozygous females unless there is either rare X;autosome translocation with the X chromosome
breakpoint at OCRL or extremely skewed X inactivation. Elevated serum creatine kinase (CK), AST,
and LDH are typical in Lowe syndrome and likely due to abnormal muscle metabolism 9. The
glaucoma is severe and requires surgical, rather than medical, management. In an example of the
latter, a female with two structurally normal X chromosomes showed classic, severe Lowe syndrome
as a result of a familial defect in X inactivation inherited from her father. You can download the
paper by clicking the button above. Paraneoplastic syndromes may have an adverse impact on cancer
treatment, so they should be controlled rapidly with the goal of proceeding with defi nitive cancer
treatment in a timely manner. Here, we propose updated diagnostic criteria for PNS.MethodsA panel
of experts developed by consensus a modified set of diagnostic PNS criteria for clinical decision
making and research purposes. The kidney problem associated with Lowe syndrome is called
proximal tubular dysfunction of the Fanconi type. A few affected females with the clinical
manifestations of Lowe syndrome have been reported 2. The oldest reported patient to live with
Lowe syndrome died at age 54 years 20. Boys with Lowe syndrome have cataracts that are present
at birth in each eye (and detectable by high resolution ultrasound prenatally in suspect cases). Often
the glaucoma is not detected until after the lenses have been removed. Strabismus, retinal dystrophy,
secondary corneal scarring, and calcific band keratopathy with keloid formation 5 may cause
additional visual impairment 4. Because the OCRL enzyme is present throughout the body, it is
unclear why the medical problems associated with this condition are mostly limited to the brain,
kidneys, and eyes. Work-role of Radiation Therapists in the Consequences of Adaptive Radiotherap.
Poor abdominal muscle tone increases the risk for chronic constipation and the development of
(predominantly inguinal) hernias. Bursitis is inflammation or irritation of a bursa sac. Thus, low
molecular-weight may be the most sensitive early marker of the renal dysfunction occurring in this
disorder. Lowe syndrome causes Mutations in the OCRL gene cause Lowe syndrome. Glaucoma
occurring in half of males sometimes may be treated with medication (eyedrops) but usually requires
surgery, which is not always successful with a single operation. Low molecular-weight proteins are
normally filtered by the glomerulus, then reabsorbed in the proximal tubule through endocytosis and
metabolized in lysosomes in proximal tubular cells. Chronic kidney disease and acidosis along with
renal rickets or other bone disease may contribute to the short stature. Case Report and Review of
the Literature Lung Cancer and Paraneoplastic Neurologic Syndromes. The Canadian Association of
Genetic Counselors ( ) has a searchable directory of genetic counselors in Canada.