Diagnoslista/länkar
Listor över diagnoser som expertteamet ansvarar för.
Glomerulopathies
Nephrotic syndrome
Glomerulopathy as part of a syndromic disorder
Denys-Drash syndrome
Frasier syndrome
Galloway-Mowat syndrome
Schimke immuno-osseous dysplasia
Pierson syndrome
Nail-patella syndrome
Leigh syndrome with nephrotic syndrome
Nephrotic syndrome, familial, steroid-resistant (SRNS), with sensorineural deafness
MYH9-related disease
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Severe oculo-renal-cerebellar syndrome
Action myoclonus-renal failure syndrome
Fibronectin glomerulopathy
Lipoprotein glomerulopathy
Collagen type III glomerulopathy
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
Nephrotic syndrome, syndromic, not otherwise specified
IgA nephropathy
Membranous glomerulonephritis
Collagenopathies (inc. Alport syndrome)
Alport syndrome
Microscopic (including familial) hematuria
Collagenopathy, not further specified
HANAC syndrome
Primary membranoproliferative glomerulonephritis (MPGN)
Immunoglobulin-mediated membranoproliferative glomerulonephritis (MPGN)
C3 glomerulopathy
Dense deposit disease
C3 glomerulonephritis
Immune complex associated membranoproliferative glomerulonephritis (MPGN), not otherwise specified
Glomerulopathy as part of a systemic disorder
Glomerulopathy as part of a genetic systemic disease
Familial Mediterranean fever
Muckle-Wells syndrome
Hypocomplementemic urticarial vasculitis
Hereditary amyloidosis with primary renal involement
AApoAI amyloidosis
ALys amyloidosis
AFib amyloidosis
AApoAII amyloidosis
Autoimmune interstitial lung disease-arthritis syndrome
Glomerulopathy as part of a non-genetic systemic disease
Systemic vasculitis associated with glomerulopathy
Systemic Lupus Erythematosus (SLE)
Childhood-onset systemic lupus erythematosus (SLE)
Granulomatosis with polyangiitis (Wegener)
Immunoglobulin A vasculitis (Henoch Schonlein nephritis, PSH)
Pauci-immune glomerulonephritis
Pauci-immune glomerulonephritis with ANCAPauci-immune glomerulonephritis without ANCA
Microscopic polyangiitis
Eosinophilic granulomatosis with polyangiitis
Polyarteritis nodosa
Takayasu arteritis
Giant cell arteritis
Relapsing polychondritis
Buerger disease
Cryoglobulinemic vasculitis
Anti-glomerular basement membrane disease
Mixed connective tissue disease
Monoclonal gammopathy of renal significance (MGRS)
C3 glomerulopathy secondary to MGRS
Proliferative glomerulonephritis with monoclonal immune deposits (PGNMID)
AA amyloidosis
AL amyloidosis
Primary systemic amyloidosis
Primary localized amyloidosis
AH amyloidosis
AApoAIV amyloidosis
Non-amyloid monoclonal immunoglobulin deposition disease
Heavy chain deposition disease
Light and heavy chain deposition disease
Light chain deposition disease
IgG4-related kidney disease
Polymyositis
Juvenile polymyositis
Dermatomyositis
Juvenile dermatomyositis
Beh
Sarcoidosis
Adult-onset Still disease
Reynolds syndrome
Systemic sclerosis
CREST syndrome
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
Immunotactoid or fibrillary glomerulopathy
Non-amyloid fibrillary glomerulopathy
Immunotactoid glomerulopathy
Idiopathic non-lupus full-house nephropathy
Tubulopathies
Primary renal tubular acidosis
Sjogren Syndrome
Primary biliary cholangitis
Autoimmune hepatitis
Other autoimmune dRTA
Cystinuria
Hypotonia-cystinuria syndrome
Bartter syndrome
Bartter syndrome, transient
Hypokalemic alkalosis, CLDN10 associated
Gitelman syndrome
Genetic primary hypomagnesemia
Hypomagnesaemia, drug-induced
Fanconi syndrome
Hypophosphatemic rickets
Hypophosphatemia, dominant, with nephrolithiasis or osteoporosis
Hypercalciuria, idiopathic
Oncogenic osteomalacia
Nephrogenic diabetes insipidus
Nephrogenic syndrome of inappropriate antidiuresis
Tubulointerstitial nephritis and uveitis syndrome
Familial renal glucosuria
Pseudohypoaldosteronism type 1
Generalized pseudohypoaldosteronism type 1
Renal pseudohypoaldosteronism type 1
EAST syndrome
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Autosomal dominant hypocalcemia
Hereditary renal hypouricemia
Thrombotic microangiopathies
Hemolytic uremic syndrome (HUS)
Thrombotic thrombocytopenic purpura (TTP)
Congenital thrombotic thrombocytopenic purpura (TTP)
Acquired thrombotic thrombocytopenic purpura (TTP)
Systemic Lupus Erythematosus associated TMA (SLE)
Childhood-onset systemic lupus erythematosus associated TMA (SLE)
De novo thrombotic microangiopathy after kidney transplantation
Metabolic nephropathies
Dent disease
Lowe syndrome
Nephropathic cystinosis
Primary hyperoxaluria
Autosomal recessive infantile hypercalcemia
Amelogenesis imperfecta-nephrocalcinosis syndrome
Fabry disease
Tubulopathy due to mitochondrial oxidative phosphorylation disorder
Methylmalonic acidemia (without homocystinuria)
Glycogen storage disease due to glucose-6-phosphatase deficiency
Glycogen storage disease due to GLUT2 deficiency
Lysinuric protein intolerance
Hereditary xanthinuria
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Phosphoribosylpyrophosphate synthetase superactivity
LCAT deficiency
Adenine phosphoribosyltransferase deficiency
Galactosemia
Renal or urinary tract malformations
Non-syndromic renal or urinary tract malformation
Renal agenesis
Renal hypoplasia
Oligomeganephronia
Renal dysplasia
Multicystic dysplastic kidney
Medullary sponge kidney
Renal tubular dysgenesis
Vesicoureteric reflux (VUR), high-grade
Vesicoureteric reflux (VUR), familial
Fetal lower urinary tract obstruction (LUTO)
Congenital hydronephrosis
Congenital primary megaureter
Neurogenic bladder, congenital or acquired
Megacystis-megaureter syndrome
Exstrophy-epispadias complex
Syndromic renal or urinary tract malformation
Acro-pectoro-renal dysplasia
Acroosteolysis dominant type
Acrorenal syndrome
Alagille syndrome
Aniridia-renal agenesis-psychomotor retardation syndrome
AREDYLD (acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes) syndrome
Bardet-Biedl syndrome (renal / urinary tract malformation)
Beckwith-Wiedemann syndrome
BOR (branchio-oto-renal) syndrome
Cat-eye syndrome
Caudal regression sequence
CHARGE syndrome
Cornelia de Lange syndrome
Di George syndrome (22q11.2 deletion)
EEC (Ectrodactyly-ectodermal dysplasia-cleft lip/palate) syndrome
Fraser syndrome
HDR (Hypoparathyroidism-deafness-renal disease) syndrome
Holoprosencephaly-radial heart renal anomalies syndrome
Infundibulopelvic stenosis-multicystic kidney syndrome
Jeune syndrome (renal / urinary tract malformation)
Kallmann syndrome
Mayer-Rokitansky-K
Meckel syndrome (renal / urinary tract malformation)
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Multicentric carpo-tarsal osteolysis with or without nephropathy
Noonan syndrome
Ochoa syndrome
OFD (Orofaciodigital) syndrome type 1
Pallister-Hall syndrome
RCAD (Renal cysts and diabetes) syndrome
Renal coloboma syndrome
Renal nutcracker syndrome
Rubinstein-Taybi syndrome
Schinzel-Giedion syndrome
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Thyrocerebrorenal syndrome
Townes-Brocks syndrome
Trisomy 13
Trisomy 18
Turner syndrome
VACTERL/VATER association
WAGR syndrome
BNAR (Bifid nose, anorectal and renal anomalies) syndrome
Kabuki Syndrome
Hereditary cystic renal diseases (ciliopathies)
Autosomal dominant tubulointerstitial kidney disease (ADTKD)
Autosomal dominant polycystic kidney disease (ADPKD)
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (ADPKD-TSC)
Tuberous sclerosis complex (TSC)
Von Hippel-Lindau disease (vHL)
Autosomal recessive polycystic kidney disease (ARPKD)
Nephronophthisis
Bardet-Biedl syndrome
Jeune syndrome (ciliopathies)
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
Senior-Loken syndrome
Senior-Boichis syndrome
Saldino-Mainzer (conorenal) syndrome
Meckel syndrome (ciliopathies)
Cerebrorenodigital (Meckel-like) syndrome
Cranioectodermal dysplasia (Sensenbrenner syndrome)
Ellis van Creveld syndrome
Alstr
Renal-hepatic-pancreatic dysplasia
RHYNS (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysaplasia) syndrome
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Karyomegalic interstitial nephritis
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Socialstyrelsens kunskapsdatabas för sällsynta hälsotillstånd: 36 njurrelaterade diagnoser
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/galaktosemi/