대학병원 정형외과를 다녔는데 주치의가 바뀌고.. 이제서야 진단이? 이제서야 희귀질환 등록이??? - 동대문구 답십리, 전농동, 우리안애 우리안愛 내과
- Byoung-Yeon Jun
- 7월 1일
- 3분 분량
40대 중반 여자
21년도 부터 혈압/고지혈 진료
2번의 검진 (유일하게 서서 엑스레이를 찍지 못하는) ... 헬리코박터 제균, 22년 3 mm 용종 한개였으나 24년에 7 mm 의 발견!
; 23년도 공복혈당 119, 당화혈색소 6.3에서 24년 말 국가검진시 공복혈당 153, 당화혈색소 7.7 --> 2제로 투약시작하고 추적 평가
D302200HZ | Glucose | 114 | H | 70-100 미만 mg/dL | 153 |
D306300HZ | Hemoglobin A1c | ** | ** | ||
HbA1c-NGSP | 6.5 | H | 정상 ≤ 5.6 % 당뇨병전단계 5.7-6.4 % 당뇨 ≥ 6.5 % | 7.7 (2024년 말) |
휠체어 타고 보행이 안되는 경우로... 4살때부터..
소아마비인가? A 대학병원 정형외과에서 특별한 진단이 없이 다니고 있다고 하여.. 그러려니 했는데
최근 계속 다니던 B 대학교 정형외과에서 교수를 달리하여! 진료를 보니 단번에 진단명을 주었다고 한다 (희귀질환 등록과 함께). 관절에 움직임에 제한도 있었고 (혈압 측정시 팔의 외전에 제한) 진통제 복용중이었는데, 최근 신경통 양상이 생겨 진료의를 변경하였다고 한다. 과거에 촬영한 사진등 특징적이었다고 한다.
; spondyloepiphyseal dysplasia, 척추골단이형성, 척추팔다리뼈끝형성이상
congenital?? tarda??
Spondyloepiphyseal Dysplasia Tarda
This group of intrinsic bone dysplasias is characterized by progressive abnormalities of spinal and epiphyseal development. The disorders must be differentiated from spondylometaphyseal and spondyloepimetaphyseal dysplasias, which primarily involve the metaphyses instead of, or in addition to, the epiphyses.
Although most cases of spondyloepiphyseal dysplasia tarda have an X-linked recessive mode of inheritance, both autosomal dominant and autosomal recessive forms are also known. This has been mapped to the SEDL gene in the Xp22 chromosome affecting the protein sedlin, which plays an important role in endoplasmic reticulum/Golgi vesicular transport.
Clinical Manifestations. Growth failure does not become evident until 5 to 10 years of age. The height reduction, which is primarily due to trunk shortening, becomes quite obvious by adolescence. At this time, patients complain of pain and stiffness in the back or hips. Secondary osteoarthritis of the hip is common and may become disabling. The chest is broad or barrel shaped. Adult height ranges from 52 to 61 inches.
Radiographic Findings. The distinctive configuration of the vertebral bodies is most evident in the adult lumbar spine. Initially, the vertebral bodies are mildly flattened (platyspondyly) with a hump-shaped accumulation of bone in the posterior and central portions of the cartilage ring apophysis; the disc space appears narrowed. The thoracic cage is broad, while the pelvis is small and deep. The epiphyses of the long bones show variable dysplastic changes, and osteoarthritis of the hips is evident.
Spondyloepiphyseal Dysplasia Congenita
Spondyloepiphyseal dysplasia congenita is the more severe form affecting the spine and epiphyses of long bones. Most cases of spondyloepiphyseal dysplasia congenita are a result of spontaneous mutation. This type of short-trunk dwarfism is typically transmitted as an autosomal dominant trait, although cases of autosomal recessive inheritance are known. Mutations to COL2A1 locus on chromosome 12 lead to abnormal type II collagen.
Clinical Manifestations. In the newborn, a broad or barrel chest, deep Harrison's grooves, and pigeon chest suggest the diagnosis. Flat, dishlike facies, cleft palate, and wide-set eyes are other early signs. In older children, the short neck makes the normal-sized head appear to rest directly on the shoulders. Myopia and retinal detachment or degeneration is occasionally seen.
The limbs show mild rhizomelic shortening but are long in comparison with the trunk; the hands and feet are essentially normal. Ligamentous laxity is excessive. Marked lumbar lordosis and moderate kyphoscoliosis occur in late childhood or early adulthood. Adults reach a height of only 33 to 52 inches.
Motor development is often delayed. In 50% of patients, hypotonia, ligamentous laxity, and odontoid hypoplasia result in atlantoaxial instability leading to spinal cord compression, which first manifests as overwhelming fatigue and decreased endurance.
Radiographic Findings. Retarded ossification of the pubic bones, femoral heads, and epiphyses of the knees, calcanei, and tali is the major feature in young children. Early in life, the vertebral bodies are ovoid or pear shaped but become flattened and irregular with time, resulting in kyphoscoliosis. Careful radiographic evaluation of the cervical spine is important because of the hazards associated with odontoid hypoplasia. Coxa vara is common, and rhizomelic shortening of the long bones with minimal dysplastic changes in the hands and feet may also be seen.
그러나, 선천성, 발당장애의 감별질환은 다수여서 구별/감별이 필요하다.
휠체어 생활한지 약 40년이 되었고...
A, B 대학병원 정형외과를 다녔는데...
이제서야 명확한 설명을 들었다면 (주치의가 위의 질환들을 감별할 수 있다는 가정하에)
대학병원에서도 마찬가지... 좋은 (소아과/정형외과) 의사를 만날 필요가 있다. 운이 필요하다. ARE YOU LUCKY?
(물론 치료는 대증 치료이긴 하지만..)
동대문구 답십리 우리안애, 우리안愛 내과, 건강검진 클리닉 내과 전문의 전병연
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