scholarly journals Primary hypertrophic osteoarthropathy

2020 ◽  
Vol 58 (5) ◽  
pp. 544-549
Author(s):  
E. L. Trisvetova
Keyword(s):  
Autosomal Recessive ◽  
Specific Treatment ◽  
Autosomal Recessive Inheritance ◽  
Hereditary Disease ◽  
Bone Lesions ◽  
Malignant Neoplasms ◽  
Childhood And Adolescence ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
X Ray

The article presents information about a rare hereditary disease – primary hypertrophic osteoarthropathy with autosomal dominant and autosomal recessive inheritance. Genetic heterogeneity is responsible for the clinical polymorphism of symptoms that appear in childhood and adolescence. Differential diagnosis should be carried out with secondary hypertrophic osteoarthropathy, which occurs in 90% of cases and is associated with malignant neoplasms, rheumatic diseases and other diseases. X-ray signs are of great importance to clarify the localization, extent and nature of bone lesions. There is no specific treatment for the disease.

scholarly journals Pulmonary alveolar microlithiasis: no longer in the stone age

2020 ◽  
Vol 6 (3) ◽  
pp. 00289-2020
Author(s):  
Elisabeth Bendstrup ◽  
Åsa Lina M. Jönsson
Keyword(s):  
Autosomal Recessive ◽  
Specific Treatment ◽  
Hereditary Disease ◽  
Radiographic Findings ◽  
Pulmonary Alveolar Microlithiasis ◽  
The World ◽  
Alveolar Microlithiasis ◽  
Parenchymal Lung Disease ◽  
Disease Specific ◽  
Parenchymal Lung

Pulmonary alveolar microlithiasis (PAM) is a rare parenchymal lung disease caused by variants in the SCL34A2 gene and characterised by the accumulation of intra-alveolar microliths. PAM has been reported in fewer than 1100 cases throughout the world. It is an autosomal recessive hereditary disease and often associated with consanguinity. Progress with respect to the genetic background and pathophysiology has resulted in an increased understanding of the disease in recent years. Until now, 30 genetic different SLC34A2 variants have been reported, which all are considered significant for disease development. There is no sex difference and the majority of cases are diagnosed at the age of 30–40 years. Many patients are asymptomatic and the diagnosis is made at random. When symptomatic, dyspnoea, cough, chest pain and fatigue are common complaints. The diagnosis of PAM can confidently be based on typical radiographic findings and genetic testing proving rare biallelic SCL34A2 gene variants. Bronchoalveolar lavage and histopathology may show microliths. There is no disease-specific treatment and management is supportive. Lung transplantation should be considered in advanced cases.

scholarly journals Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings

2019 ◽  
Vol 158 (3) ◽  
pp. 126-132
Author(s):  
Murat Torgutalp ◽  
Ceren D. Durmaz ◽  
Halil G. Karabulut ◽  
Wenke Seifert ◽  
Denise Horn ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Periosteal Reaction ◽  
Homozygous Mutation ◽  
Hypertrophic Osteoarthropathy ◽  
Imaging Findings ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing ◽  
Autosomal Recessive Condition ◽  
Homozygous Mutations ◽  
Hands And Feet

Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. PHO is caused by homozygous mutations in the HPGD gene in chromosome 4q34.1 or the SLCO2A1 gene in 3q22.1q22.2. Here, we report on a 20-year-old male with enlarged and swollen joints with arthralgia, palmoplantar hyperhidrosis, and large hands and feet with marked digital clubbing. We also present radiographic, MRI, and ultrasonographic features of the case. These clinical and imaging findings were compatible with the diagnosis of PHO, and a novel homozygous mutation, c.576C>G, p.Ile192Met, was found in SLCO2A1.

scholarly journals Familial mediterranean fever: clinical case

2019 ◽  
Vol 10 (1) ◽  
pp. 101-107
Author(s):  
Roman S. Saykovskiy ◽  
S. V. Sadovnikova
Keyword(s):  
Familial Mediterranean Fever ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Autosomal Recessive Inheritance ◽  
Hereditary Disease ◽  
History Of Research ◽  
Mediterranean Origin ◽  
History Of ◽  
Mediterranean Fever ◽  
Methods Of Treatment

Background. Familial Mediterranean fever (FMF) is the brightest exponent of autoinflammatory diseases. FMF usually occurs to people of Mediterranean origin (Jews, Armenians, Azerbaijanis, Arabs, Kurds, Greeks, Turks and Italians). This is a hereditary disease with the autosomal recessive inheritance. Includes history of research, epidemiology FMF, variants of the disease course, methods of treatment. Clinical case description. A 61-year-old woman arrived complaining of weakness, fever, joint pain. First sign of disease showed at 20-years-old. When she came in: WBC 20.1–109/l, HGB 6.7 g/ml, ESR 60 mm/h, CRP 100 mg/l, CRP 202 μmol/L, UREA 19.7 mmol/L. Quantity of protein in one liter of urine 0.160 g. Ultrasonic signs of pyelectasis in both kidneys. The diagnosis was made on the basis of characteristic attacks of fever, polyarthritis, thoracalgia of Armenian nationality patient. The diagnosis was confirmed by the detection of amyloidosis and genetic data. Conclusion. Knowledge of the FMF clinical profile is important for differential diagnosis with many acute conditions, e.g. acute abdomen, myocardial infarction, pneumothorax, rheumatic diseases. It is important to remember that untimely diagnosis and improper treatment lead to the development of AA-amyloidosis (30–40%) with the outcome of renal failure.

scholarly journals Pregnancy and delivery in patients with hepatolenticular degeneration

2003 ◽  
Vol 52 (4) ◽  
pp. 68-71
Author(s):  
V. G. Vakharlovsky ◽  
F. K. Lagkueva ◽  
S. O. Kusova ◽  
T. I. Tzidaeva
Keyword(s):  
Autosomal Recessive ◽  
Clinical Symptoms ◽  
Specific Treatment ◽  
Autosomal Recessive Inheritance ◽  
Teratogenic Effect ◽  
Hepatolenticular Degeneration ◽  
Disease Exacerbation ◽  
Successful Pregnancy ◽  
First Case ◽  
Pregnancy And Delivery

Data of pregnancy course and delivery in 3 patients with hepatolenticular degeneration (GLD) a rare disease of autosomal recessive inheritance pattern are presented. In one case GLD was diagnosed prior pregnancy and treatment with cuprenil was continued during pregnancy. No progressive GLD clinical symptoms were observed. However pregnancy and delivery appeared to provoke GLD typical manifestations in other two patients. They have not got specific treatment with cuprenil during pregnancy as disease was diagnosed only after delivery. Deliveries in patients with GLD were successful and the newborns were healthy. No evidence of cuprenil teratogenic effect on fetus was revealed in the first case. This GLD is not contraindication for successful pregnancy but it is necessary to use cuprenil for prevention of disease exacerbation.

scholarly journals Comparative clinical characterization of the new recessive mucopolysaccharidosis-plus disease in the Yakut and Turkish populations

2020 ◽  
pp. 90-92
Author(s):  
С.Н. Новгородова ◽  
Н.Р. Максимова
Keyword(s):  
Autosomal Recessive ◽  
Metabolic Diseases ◽  
Autosomal Recessive Inheritance ◽  
Hereditary Disease ◽  
Recessive Inheritance ◽  
Disease Group ◽  
Lysosomal Disease ◽  
Early Infant ◽  
Hereditary Metabolic Diseases

МПС - группа наследственных болезней обмена веществ, связанных с нарушением метаболизма гликозаминогликанов (ГАГ), приводящая к мультисистемному поражению органов и тканей. Обусловлены данные заболевания мутациями генов, контролирующих процесс внутрилизосомного гидролиза макромолекул. Недавно выявлено новое наследственное заболевание с аутосомно-рецессивным типом наследования, относящееся к группе лизосомных заболеваний, клинически схожее с МПС, с мутацией в гене VPS33A, названное мукополисахаридоз-плюс (МПС-ПС) (OMIM #617303). Оно встречается у детей якутской национальности и приводит к ранней младенческой смертности. Также оно описано одновременно у 2 сибсов из Турции. Описанная впервые мутация c.1492C>T (p.Arg498Trp) в гене VPS33A является причиной МПС-плюс в обеих популяциях. MPS is a group of hereditary metabolic diseases associated with impaired glycosaminoglycan (GAG) metabolism, leading to multisystem damage of organs and tissues. Recently, a group of scientists revealed a new hereditary disease with an autosomal recessive inheritance type, belonging to the lysosomal disease group, clinically similar to MPS, with a mutation in the VPS33A gene, called mucopolysaccharidosis plus (MPS-PS) (OMIM # 617303), found in Yakut children, leading to early infant mortality, and also described simultaneously in 2 siblings from Turkey. The newly described c.1492C> T (p.Arg498Trp) mutation in the VPS33A gene is the cause of MPS-plus in both populations.

scholarly journals JUVENILE IDIOPATHIC ARTHRITIS ASSOCIATED WITH INCOMPLETE PRIMARY HYPERTROPHIC OSTEOARTHROPATHY (PACHYDERMOPERIOSTOSIS)

2015 ◽  
Vol 24 (4) ◽  
pp. 226-229
Author(s):  
Vasilia Cristina Iorgoveanu ◽  
◽  
Raluca Ionescu ◽  
Laura Groseanu ◽  
Ruxandra Ionescu ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Bone Formation ◽  
Joint Pain ◽  
Disease Onset ◽  
Distal Tibia ◽  
Specific Treatment ◽  
Hereditary Disease ◽  
Hypertrophic Osteoarthropathy ◽  
New Bone Formation ◽  
Hands And Feet

Introduction. Hypertrophic osteoarthropathy (HOA) is a rare, hereditary disease characterized by clubbing and new bone formation in the periosteal region that may be associated with joint pain, cutaneous abnormalities, seborrhea or hyperhydrosis. Juvenile idiopathic arthritis (JIA) is one of the most frequent chronic diseases with childhood onset, patients develop inflammatory joint pain and extra-articular manifestations with imunologic substrate. The association of the two diseases is very rare. 24 years old patient related disease onset at the age of 14 with arthritis of proximal interphalangeal joints (PIP), knees and right ankle. He is diagnosed with oligoarticular form of juvenile idiopathic arthritis. He receives Methotrexate, Suphasalazyne and association of the two, but after 5 years biological therapy with Etanercept is started. Later on, repeated physical examination revealed digital clubbing, non-painful enlargment of hands and feet with sweaty teguments. Radiological examination with subperiosteal new bone formation of the distal tibia, the fibula, the radius, the ulna, the metacarpals and the phalanges confirms the suspicion of HOA – pachydermoperiostosis (PDP). Conclusion. Final diagnosis considers both entities. The incomplete form of PDP included hands and feet enlargement with extensive periostitis, palmoplantar hyperhydrosis, but no significant facial changes. The specific treatment for JIA did not influence the evolution of PDP.

Pelizaeus Merzbacher phenotype with epilepsy and autosomal recessive inheritance in two siblings

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
U Gaiser ◽  
J Neuberger ◽  
E Regel ◽  
R Emmert ◽  
M Ries
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

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