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1.
Ann Biol Clin (Paris) ; 80(1): 81-83, 2022 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-35225240

RESUMEN

Ligneous conjunctivitis (LC) is a rare form of pseudomembranous chronic conjunctivitis caused by a deficiency in plasminogen activity. Due to its rarity, little is known about this disorder. We hereby report a case of ligneous conjunctivitis, describing the clinical findings, the biological diagnosis and the treatment of this rare disease.


Asunto(s)
Trastornos de las Proteínas de Coagulación , Conjuntivitis , Trastornos de las Proteínas de Coagulación/complicaciones , Conjuntivitis/diagnóstico , Conjuntivitis/tratamiento farmacológico , Conjuntivitis/etiología , Humanos , Marruecos , Plasminógeno/deficiencia , Plasminógeno/uso terapéutico , Enfermedades Cutáneas Genéticas
3.
Ann Biol Clin (Paris) ; 71(2): 241-5, 2013.
Artículo en Francés | MEDLINE | ID: mdl-23587596

RESUMEN

Congenital nephrogenic diabetes insipidus is a rare, hereditary in nature, characterized by an inability of the kidney to concentrate urine, secondary to the manifold resistance to the action of vasopressin. X-linked forms of transmission (90%) are expressed in boys, from the neonatal period in general, by polyuria and polydipsia. Symptomatology in transmissive girls is variable but can sometimes be quite marked. These forms are secondary to mutations in the gene encoding the vasopressin V2 receptor, located at position Xq28, responsible for a loss of function of this receptor. Some of these mutations may cause a partial phenotype, less severe. Forms of autosomal, recessive or dominant are more rare (10%). Treatment is symptomatic, sometimes difficult in infants. It aims to avoid episodes of dehydration. It is based on a conventional diet hypo-osmotic and administration of hydrochlorothiazide and indomethacin. We report here the case of a child with congenital nephrogenic diabetes insipidus hospitalized at Children's Hospital of Rabat and throughout this case we review the pathophysiology and clinical and biological characteristics of the disease and including importance of contribution of clinical biochemistry laboratory in the diagnosis and monitoring of this disease.


Asunto(s)
Diabetes Insípida Nefrogénica/diagnóstico , Niño , Técnicas de Laboratorio Clínico/métodos , Diabetes Insípida Nefrogénica/sangre , Diabetes Insípida Nefrogénica/complicaciones , Diabetes Insípida Nefrogénica/orina , Humanos , Masculino , Monitoreo Fisiológico/métodos , Polidipsia/diagnóstico , Polidipsia/etiología , Poliuria/diagnóstico , Poliuria/etiología
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