Congenital Pelger‐Huët anomaly in a horse

Gill, Amy F.; Gaunt, Stephen D.; Sirninger, Jeffery

doi:10.1111/j.1939-165x.2006.tb00165.x

Cited by 15 publications

(6 citation statements)

References 6 publications

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“…Pelger–Huet anomaly has been studied in rabbits, dogs, cats, and mice [Nachtsheim, ; Bowles et al, ; Latimer and Prasse, ; Latimer et al, ; Shultz et al, ]; two occurrences of PHA in horses were also described [Gill et al, ; Grondin et al, ]. These studies have noted that there are similarities between homozygosity for PHA in animals and Greenberg skeletal dysplasia in humans.…”

Section: Discussionmentioning

confidence: 99%

Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR

Borovik

Modaff

Waterham

et al. 2013

American J of Med Genetics Pt A

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The Lamin B receptor (LBR) gene has been described to encode a bifunctional protein. Mutations in the LBR gene can affect neutrophil segmentation and sterol reductase activity and have been associated with two different recognized clinical conditions, Pelger-Huet anomaly (PHA) and Greenberg skeletal dysplasia. PHA is a benign autosomal co-dominant laminopathy resulting in bilobed neutrophil nuclei in heterozygotes, and unsegmented (ovoid) neutrophil nuclei in homozygotes. Some putative PHA homozygotes have been reported with minor skeletal malformations. Greenberg skeletal dysplasia is a severe autosomal recessive, perinatal lethal dwarfing disorder in which heterozygous carriers are usually without clinical manifestations. We here report a girl who has bilobed neutrophil nuclei and a mild skeletal dysplasia. Mutation analysis showed two novel mutations in the LBR gene: c.651_653 delinsTGATGAGAAA (p.Ile218Aspfs*19) and c.1757G > A (p.Arg586His). These mutations were found to be in trans, and, thus, she is a compound heterozygote. Sterol analysis found trace amounts of cholesta-8,14-dien-3beta-ol, which is normally undetected in healthy individuals. This and previously reported cases suggest that mutations in LBR can result in a continuum of phenotypic manifestations.

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Section: Discussionmentioning

confidence: 99%

Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR

Borovik

Modaff

Waterham

et al. 2013

American J of Med Genetics Pt A

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“…The use of drugs, such as sulfonamides and colchicine, serious infections, myeloid leukemias, and metastatic tumors in the bone marrow may also result in acquired hypo-segmentation, also called pseudo Pelger-Huët anomaly. Considering the hereditary origin of the anomaly, searching family members for confirmation should also be considered [1,5,8].…”

Section: Discussionmentioning

confidence: 99%

Forma heterozigota da anomalia de Pelger-Huët em cão

Goulart

Marcusso

Júnior

et al. 2018

Acta Scientiae. Vet.

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Background: The Pelger-Huët anomaly is a congenital alteration in segmented neutrophil, eosinophil and basophil morphology consisting of nuclear hypo-segmentation. It presents in two ways: the homozygote (very rare) presenting granulocytes with rounded nuclei and dense chromatin, where nuclei with more than two lobes are not found; and in the heterozygote form which presents leukocytes with bi-lobulated nuclei, yet leukocytes that seem immature can also be found. Diagnosis is important for preventing WBC interpretation errors. The objective of this study is to report a case of the heterozygote form of Perger-Huët anomaly in an Australian Shepherd bit.Case: A 6-year-old Australian Shepherd bitch, weighing 28 kg, was received to perform tartar cleaning at the Veterinary Hospital (HV) of the Universidade Estadual de Maringá (UEM), in Umuarama in Paraná State. In the anamnesis, the owner reported that the animal was healthy, vaccinated, and had not made use of medications recently. Upon physical examination, the animal was overweight, with adequate hydration, alert consciousness level, no exo-parasites present, rectal temperature of 39.3°C (37.5 to 39.2), heart rate of 96 beats per min (60 to 120 beats per min), breathing (18 to 36 movements per min), a two second capillary perfusion time, strong and regular pulse, hyperemic oral mucosa, and otherwise, a normal-colored and popliteal reactive left lymph. Semiological evaluation presented no alteration. Due to the tartar cleaning procedure, a hemogram was requested. Blood smear analysis from the first blood workup showed a large increase in the number of hypo-segmented leukocytes, with a pattern of mature chromatin, in the form of bands and meta-myelocytes, characterizing a deviation to the left, all of which did not correspond to the patient’s clinical presentation. In addition, other cells in the granulocytic lineage, such as eosinophils, also presented hypo-segmentation. Since the dog was healthy, the Pelger-Huët anomaly was suspected. To confirm, the hemogram was repeated at 12 days and a bone marrow collection was performed; the same pattern of morphological alterations in leukocytes was observed both in the peripheral blood and the bone marrow, compatible with the Pelger-Huët anomaly.Discussion: In order to arrive at an APH diagnosis, hypo-segmentation of granulocytes in the blood smear must be found and compared with the clinical results that the animal presents; associating any use of medication, serious infections, myeloid leukemia, and metastatic tumors in the bone marrow that might result in acquired hypo-segmentation; also known as pseudo Pelger-Huët anomaly. It is also necessary to evaluate family members for confirmation. Diagnosis is based on persistent nuclear hypo-segmentation of granulocytes, a clinically healthy animal, absence of medication use, and analysis of the bone marrow. It was not possible to determine a hereditary origin; for not having access to the animal’s family, but earlier studies have shown that the incidence of this anomaly is high in the Australian Shepherd race. Generally, the Perger-Huët anomaly is a hematological finding that must be differentiated from other forms of hypo-segmentation. Because of its hereditary origin, it is appropriate that the owner limits the animal’s reproductive interactions to avoid the risk of offspring inheriting the homozygote, which leads to death. The clinical pathologist should be aware of the patient’s history to diagnose and differentiate true from pseudo Pelger-Huët anomaly. Direct blood smear microscopy is essential, because automated hematological analysis alone will not detect such changes.

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“…Unter einer degenerativen Linksverschiebung versteht man eine höhere Anzahl an unreifen Neutrophilen als an reifen. Selten wurde auch beim Pferd die kongenitale Pelger-Huët-Anomalie, bei der überwiegend unreife Leukozyten (v. a. Neutrophile) im peripheren Blut vorkommen, beschrieben [6].…”

Section: Entzündung Oder Infektionenunclassified

Das weiße Blutbild – Von Stressleukogramm, Leukämie und Lymphopenie

Törner¹,

Kaufhold²

2019

pferde spiegel

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Congenital Pelger‐Huët anomaly in a horse

Cited by 15 publications

References 6 publications

Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR

Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR

Forma heterozigota da anomalia de Pelger-Huët em cão

Das weiße Blutbild – Von Stressleukogramm, Leukämie und Lymphopenie

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