Creatine Kinase Normal or Increased & Increased Serum Creatine Phosphate & Vacuolization: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Creatine Kinase Normal or Increased, Increased Serum Creatine Phosphate, Vacuolization,

Negated

None

Unsure

None

Possible Causes

Limb-Girdle Muscular Dystrophy Type 1G

[…] membrane in the vacuoles. [doi.org]

Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. [mendelian.co]

Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}. [genecards.org]

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Limb-Girdle Muscular Dystrophy Type 1E

Pathologic findings in one of the patients showed rimmed vacuoles. [ncbi.nlm.nih.gov]

kinase normal-to-moderate increase Genetic testing gold standard Slit-lamp examination to evaluate for cataracts classically posterior subcapsular cataracts Electrocardiogram [medbullets.com]

Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}. [genecards.org]

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Glycogen Storage Disease Type 2

At juvenile onset, a more moderate vacuolization without significant differences in overall morphology is notable. [ncbi.nlm.nih.gov]

Creatine Kinase is measure of muscle destruction. Normally, an increase in lactate and increase ammonia. [youtube.com]

Laboratory results are significant for an elevated creatine kinase level of 1,423 U/L (normal 200 U/L). There was no increase of lactate on forearm nonischemic testing. [medbullets.com]

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Hyaline Body Myopathy

Enzyme histochemistry or immunostaining for these sarcolemmal proteins demonstrate strikingly numerous cytoplasmic vacuoles in Danon disease and X-linked myopathy with excessive [basicmedicalkey.com]

In those with CCD, blood studies typically reveal normal or slightly increased levels of the enzyme creatine kinase in the fluid portion of the blood (except during a malignant [rarediseases.org]

Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives. [ghr.nlm.nih.gov]

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Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

[…] recurrent episodes after exercise Treatment: Low carbohydrate diet; Regular exercise Skeletal muscle Abnormal glycogen accumulation: Coarse granular, Amylase-resistant, Cytoplasmic [neuromuscular.wustl.edu]

[…] serum creatine kinase after statin treatment (see {311870.0004}), but no other symptoms. [bio2rdf.org]

Careful monitoring of the serum creatine kinase and phosphate levels is essential. Intravenous fluids, furosemide, and hemodialysis are sometimes required. [clinicalgate.com]

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Glycogen Storage Disease due to Muscle Beta-Enolase Deficiency

Serum creatine kinase levels are usually normal or minimally increased in the periodic paralyses and myotonic disorders. [clinicalgate.com]

normal.  Elevated levels of serum creatine kinase (CK) and aldolase suggest muscle involvement, but normal values do not exclude the future development of myopathy. 22. [slideshare.net]

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Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

Serum transaminase concentrations are increased; creatine kinase levels are normal. The liver typically is markedly enlarged causing a protuberant abdomen. [clinicaladvisor.com]

[…] severe in childhood-onset Adult onset: Variable among muscles; Some may be normal Electron microscopy Glycogen in cytoplasm, single membrane-bound, autophagic (Lysosomal) vacuoles [neuromuscular.wustl.edu]

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Glycogen Storage Disease Type 3

[…] hepatomegaly hepatic fibrosis glycogen hepatocytic overload rarefied cytoplasm pyknotic anc eccentrically-located nuclei mosaic appearance hepatocytic steaosis hepatocyte vacuolation [humpath.com]

Serum transaminase concentrations are increased; creatine kinase levels are normal. The liver typically is markedly enlarged causing a protuberant abdomen. [clinicaladvisor.com]

Liver histology with hematoxylin-eosin stained reaction showed hepatocytes with vacuolated cytoplasm and central nuclei ( Fig. 1 ). [indianpediatrics.net]

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Muscular Dystrophy-Dystroglycanopathy Type C2

License: CC BY-SA 3.0 On histological investigation, ringed vacuoles and intranuclear inclusion are seen. There is no known therapy. [lecturio.com]

Of the few patients so far reported, one had onset at 18 months, achieved walking, and had increased serum creatine kinase, muscle hypertrophy, low IQ, and right bundle branch [link.springer.com]

[…] syndrome (WWS) caused by a mutation in the POMT1 gene. ( 15792865 ) Balci B....Topaloglu H. 2005 8 Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles [malacards.org]

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Autosomal Dominant Progressive External Ophthalmoplegia Type 6

[…] organic aciduria (i.e., large amounts of lactic, 3-hydroxy-butyric, beta-hydroxy-butyric, fumaric, malic, succinic, and, often, 3-methyl-glutaconic acids), together with cytoplasmic [path.upmc.edu]

The results of routine laboratory tests were normal, including serum creatine kinase concentrations in the resting state. [nejm.org]

The white matter pathology is vacuolating myelinopathy, seen mainly in the KSS. The most common mitochondrial disorders are listed below. [neuropathology-web.org]

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Myofibrillar Myopathy Type 4

The rimmed vacuoles were reactive for several markers of defect autophagy such as ubiquitin, TDP-43, p62 and SMI-31. [actaneurocomms.biomedcentral.com]

Asymptomatic individuals may also present with a high creatine kinase (CK) level or malignant hyperthermia. [slideshare.net]

Although not specific to desminopathy, rimmed vacuoles have been observed in most cases. [jci.org]

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Vacuolar Neuromyopathy

On biopsy, there was a lipid storage myopathy, lipid containing vacuoles in leukocytes, and vacuoles in Schwann cells. [mayoclinic.pure.elsevier.com]

In statin myopathies, the creatine kinase (CK) level may be normal or there may be asymptomatic CK increases. 8 With continued exposure to the toxin, the patient may develop [now.aapmr.org]

Careful monitoring of the serum creatine kinase and phosphate levels is essential. Intravenous fluids, furosemide, and hemodialysis are sometimes required. [clinicalgate.com]

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Myopathy and Diabetes mellitus

The concurrent degenerative features include vacuolization, filamentous inclusions and intracellular accumulations of amyloid-beta-related molecules. [scienceopen.com]

Patient 5 felt better and his serum creatine kinase level returned to normal when zidovudine was discontinued, but his strength did not increase substantially, and he died [nejm.org]

The magnitude of creatine kinase (CK) elevation required to define rhabdomyolysis has increased from 500 IU/L in 1982, 6 to 1,000 IU/L in 1988, 7 to 50 times the upper limit [mdedge.com]

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Distal Myopathy Type Tateyama

Rimmed vacuoles were present in approximately 7% ofthe muscle bers (A). [docslide.com.br]

Creatine kinase (CK) levels in affected individuals vary from normal to significantly increased. [invitae.com]

(Q–X) The rimmed vacuoles were often related to Ub, phosphorylated SQSTM1/p62 (Q–T, arrows), and hnRNPA2B1 (U–X, asterisks indicate a rimmed vacuole–carrying fiber). [ng.neurology.org]

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Miyoshi Myopathy Type 3

The CK is slightly high and there are no vacuoles in the muscular biopsy. [scielo.br]

Creatine kinase analysis Creatine kinase (CK) levels were increased in all patients. [jnnp.bmj.com]

Miyoshi Myopathy is distinctive in that most distal myopathies produce "rimmed vacuoles" in muscle biopsies. [jain-foundation.org]

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Muscular Dystrophy-Dystroglycanopathy Type A14

Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. [mendelian.co]

Serum creatine kinase was normal. What is the most likely diagnosis in this patient? FIGURE 10.6 Median nerve CMAP tracings (Courtesy of Dr. Robert Shields) a. [doctorlib.info]

Congenital, Autosomal Recessive 9 1 Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related 2 Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis 2 Ichthyosis, Leukocyte Vacuoles [preventiongenetics.com]

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X-Linked Scapuloperoneal Myopathy

[…] the more common including ice crystal – slow freezing or thawing is associated with spaces in the fiber saline artefact – samples sent in large volumes of saline contain vacuoles [clinicalgate.com]

His serum creatine kinase (CPK) level was increased 50 times normal. His BUN was increased, and myoglobin was in his urine. [quizlet.com]

[HPO:curators] Show HP:0003704 Scapuloperoneal weakness Show HP:0003715 Muscle biopsy shows myofibrillar myopathy Show HP:0003805 Rimmed vacuoles Show HP:0007340 Lower limb [manteia.igbmc.fr]

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Muscular Dystrophy-Dystroglycanopathy Type A2

Dysferlin protein has been localized to the sarcolemma, the T-tubule system, and cytoplasmic vacuoles. [emedicine.medscape.com]

MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. [genecards.org]

Asymptomatic individuals may also present with a high creatine kinase (CK) level or malignant hyperthermia. [slideshare.net]

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Diabetic Ketoacidosis

Autopsy showed Wischnewsky lesions, Armanni-Ebstein lesions, and basal subnuclear vacuolization, together with elevated vitreous glucose and β-hydroxybuyrate. [ncbi.nlm.nih.gov]

His haemoglobin increased, reticulocytes count rose and serum creatine kinase and bilirubin returned to normal (Figure 1 ) and he was discharged home on subcutaneous insulin [dx.doi.org]

Dehydration also can lead to increases in total serum protein, albumin, amylase, and creatine phospho-kinase concentration in patients with acute diabetic decompensation. [spectrum.diabetesjournals.org]

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Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

We found that 92.5 /-5.0% of myonuclei had structural abnormalities, including shape irregularity and/or chromatin disorganization, and the presence of peri-/intranuclear vacuoles [ncbi.nlm.nih.gov]

The levels of serum creatine kinase were marginally increased in Patient 2, and were normal in Patients 1 and 3. [spandidos-publications.com]

Creatine kinase values are normal. [ncbi.nlm.nih.gov]

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Muscular Dystrophy-Dystroglycanopathy Type C12

Flexion contracture Uncommon Symptoms - Between 30% and 50% cases Hyperlordosis Generalized hypotonia Autosomal recessive inheritance Achilles tendon contracture Rimmed vacuoles [mendelian.co]

Both patients had increased serum creatine kinase and muscle biopsy typical for muscular dystrophy. IQ was 80 and 83, respectively, and each attended special schools. [findzebra.com]

The clear vacuoles within the cytoplasm of the myofibers represent mild to moderate ice crystal artifact. [emedicine.medscape.com]

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Paraquat Lung

At first the alveolar epithelium cells become edematous or vacuolated and an intra-alveolar edema occurs; the edema fluid is low in protein. [link.springer.com]

creatine phosphate kinase (CPK) and creatine kinase isoenzyme MB (CK-MB) were normal. [scirp.org]

creatine phosphate kinase (CPK) and creatine kinase isoenzyme MB (CK-MB) were normal. [scirp.org]

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Muscular Dystrophy-Dystroglycanopathy Type A4

DMRV, Nonaka myopathy, Rimmed vacuole myopathy, Quadriceps Sparing Myopathy, GNE myopathy Kearns-Sayre syndrome Synonyms: KSS, Ophthalmoplegia, pigmentary degeneration of [rarediseases.info.nih.gov]

Serum creatine kinase can also be normal in the initial phases of the disorder or only mildly elevated, but tends to increase with age. [mrineonatalbrain.com]

IBM2, Inclusion body myopathy, autosomal recessive, Inclusion body myopathy, quadriceps-sparing, QSM, Hereditary inclusion body myopathy, HIBM, Distal myopathy with rimmed vacuoles [rarediseases.info.nih.gov]

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Hyperphosphatemia

Amizuka N, Saito H, Miyamoto KI Endocrinology 159(7) 2741-2758 Jul 2018 [Refereed] Relationship between sodium-dependent phosphate transporter (NaPi-IIc) function and cellular vacuole [researchmap.jp]

Creatine phosphokinase levels and serum uric acid are elevated in rhabdomyolysis, while tumor lysis syndrome shows normal or marginally elevated creatine kinase and markedly [ncbi.nlm.nih.gov]

Creatine phosphokinase levels and serum uric acid are elevated in rhabdomyolysis, while tumor lysis syndrome shows normal or marginally elevated creatine kinase and markedly [ncbi.nlm.nih.gov]

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