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57 Possible Causes for Chronic Kidney Insufficiency, No Retinopathy, Retinal Pigmentary Dystrophy

  • Laurence Moon Syndrome

    In one specific case, patients of the same family were described to exhibit retinopathy, subaverage intellectual ability, first metacarpal hypoplasia, abnormal development[] Main features of syndrome are polydactyly, pigmentary retinal dystrophy, central obesity, mental retardation and hypogonadism [3].[] ; (2) atypical retinitis pigmentosa, with increased pigmentary disturbance in the central area of the fundus rather than the periphery; (3) macular dystrophy; (4) atypical[]

  • Alport Syndrome

    Lenticonus and retinopathy were first noted in 14 and 11 year olds, respectively. All boys with retinopathy had a hearing loss.[] This syndrome affects both men and women, but men are more likely to experience chronic kidney disease and sensory loss.[] […] and ureter, unspecified 2016 2017 2018 2019 Billable/Specific Code Applicable To Nephropathy NOS Renal disease (acute) NOS Renal insufficiency (acute) Type 1 Excludes chronic[]

  • Senior-Løken Syndrome

    We present two sisters with nephronophthisis and pigmentary retinopathy (Senior-Loken syndrome) and associated liver fibrosis.[] dystrophy, cerebellar ataxia, and skeletal dysplasia;conorenal syndrome; renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome Related[] The ensuing tubulointerstitial nephritis can induce acute or chronic renal insufficiency and subsequently progress to end-stage kidney disease before the age of 20.[]

  • Danon Disease

    CLINICAL RELEVANCE: LAMP2 belongs to a growing number of retinopathy genes.[] pigmentary dystrophy should prompt LAMP-2 clinical testing.[] […] dL (Chronic kidney disease or CKD3)].[]

  • Alstrom Syndrome

    Alström syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus, photophobia, and pigmentary retinopathy), progressive sensorineural hearing[] In addition, narrowing of the retinal vessels, cone-rod retinal dystrophy, chorioretinal atrophy, atypical pigmentary retinopathy without classical bone spicules, macular[] The progression of the disease can lead to acute or chronic renal insufficiency and finally to end-stage kidney disease (ESKD).[]

  • Acrootoocular Syndrome

    retinopathy, Purtscher’s retinopathy, Terson’s syndrome, retinal vein occlusion, retinal macroaneurysm and hemorrhagic vitreous detachment. 11 Once a diagnosis is confirmed[] pigmentary dystrophy, nystagmus/AR/IFT140/#266920 MANNOSIDOSIS /Conjunctival vessel tortuosity, nystagmus, impaired smooth pursuits, progressive retinal degeneration, heavy[] Juvenile NPH may remain asymptomatic for several years or present with subtle and often unrecognized signs such as polyuria and polydypsia, until acute or chronic renal insufficiency[]

  • Constitutional Anemia due to Iron Metabolism Disorder

    […] diabetic retinopathy with macular edema, left eye E09.3413 Drug or chemical induced diabetes mellitus with severe nonproliferative diabetic retinopathy with macular edema[] [bi-allelic RPE65 mutation-associated retinal dystrophy] H35.52 Pigmentary retinal dystrophy [retinitis pigmentosa] H47.22 Hereditary optic atrophy [Leber's optic atrophy[] […] syndrome, may respond to hormonal therapy. [34] Renal insufficiency Chronic kidney disease is an important cause of anemia in elderly persons, especially considering that[]

  • Joubert Syndrome

    Retinal problems include congenital retinal dystrophy, pigmentary retinopathy, fundus flavimaculatus, chorioretinal coloboma, and perimacular and retinal blindness.[] Juvenile NPH may remain asymptomatic for several years or present with subtle and often unrecognized signs such as polyuria and polydypsia, until acute or chronic renal insufficiency[] A large study of 235 families with JSRD identified retinal dystrophy in 30% of cases 1, 27.[]

  • Nephronophthisis 1

    retinopathy in majority of them (four of five).[] Popovic-Rolovic M, Calic-Perisic N, Bunjevacki G, Negovanovic D: Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities[] Vit D 25 and Vit D 1,25: for those with advanced renal insufficiency (chronic kidney disease [CKD] Stage 3 or 4) are also indicated.[]

  • Isolated Congenital Alacrima

    DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE ABETALIPOPROTEINEMIA (BASSEN-KORNZWEIG SYNDROME) Retinopathy[] , dyserythropoietic anemia, and calvarial hyperostosis Tropical calcific pancreatitis Hereditary pancreatitis Chronic pancreatitis Acute pancreatitis Urinary system diseases[] ROP): Retinopathy of Prematurity (ROP) Retinopathy of prematurity ( ROP ), previously known as retrolental fibroplasia ( RLF ), is an eye disease that affects prematurely-born[]

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