RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis
Adenine APRT Deficiency confirmed None, if APRT Deficiency Date that clinical diagnosis Phosphoribosyltransferase APRT Deficiency Abolished APRT enzyme activity or confirmed not confirmed was first made Deficiency (APRT-D) disease-causing mutation Alport Syndrome definite or probable
Alport carrier definite or probable
Female heterozygote for X-linked Alport Alport Syndrome and Type Date that clinical diagnosis Alport Syndrome (COL4A5) None stated IV collagenopathies was first made
Heterozygote for autosomal Alport Syndrome (COL4A3, COL4A4)
Thin basement membrane nephropathy Autoimmune distal renal Date that clinical diagnosis Tubulopathy Autoimmune distal renal tubular acidosis None stated tubular acidosis was first made Autosomal dominant distal renal tubular acidosis Autosomal dominant distal Date that clinical diagnosis Tubulopathy None stated renal tubular acidosis Genetically confirmed heterozygous pathogenic was first made variant in SLC4A1 Autosomal recessive distal renal tubular acidosis Autosomal recessive distal Date that clinical diagnosis Tubulopathy None stated renal tubular acidosis Genetically confirmed homozygous pathogenic was first made variant in ATP6V0A4, ATP6V1B1 or FOXI1 Autosomal recessive proximal renal tubular Autosomal recessive acidosis with ocular abnormalities and intellectual proximal renal tubular disability Date that clinical diagnosis Tubulopathy None stated acidosis was first made Genetically confirmed homozygous pathogenic variant in SLC4A4
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis Bartter Syndrome, infantile onset
Bartter Syndrome types 1 Hypokalaemic alkalosis, infantile onset without Acidosis Date that clinical diagnosis Tubulopathy hypertension and 2 was first made Persistent Hyperkalaemia Hypokalaemic alkalosis, infantile onset with raised renin Bartter Syndrome type 3
Gitelman Syndrome Bartter Syndrome type 3 Acidosis Date that clinical diagnosis
Gitelman Syndrome Tubulopathy Hypokalaemic alkalosis with hypomagnesaemia was first made Hyperkalaemia Hypokalaemic alkalosis with raised renin
Hypokalaemic alkalosis without hypertension Bartter Syndrome, infantile onset with deafness
Hypokalaemic alkalosis, infantile onset without Acidosis Date that clinical diagnosis Tubulopathy hypertension with deafness Bartter Syndrome Type 4 was first made Persistent Hyperkalaemia Hypokalaemic alkalosis, infantile onset with raised renin, with deafness
Significant BK viraemia, with polymerase chain reaction (PCR) greater than or equal to 10 log 4 Date that PCR first equalled copies per ml. None stated BK Nephropathy BK Nephropathy or exceeded 10 log 4
A confirmatory biopsy is not required.
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis
Date that the diagnosis was Any patient with a diagnosis of clinical diagnosis None stated made by a nephrologist or Calciphylaxis Calciphylaxis of Calciphylaxis; tissue diagnosis not required dermatologist
Date that biochemical testing Cystinosis (Nephropathic Cystinosis Cystinosis None stated first showed an elevated level Cystinosis) of white blood cell cysteine
Biochemically proven cystine kidney stone Another cause of proximal tubular Date that any of the dysfunction accounting Urinary cystine level > 3X reference range of the inclusion criteria first for the raised cystine Cystinuria Cystinuria laboratory it was taken in occurred level e.g. Fanconi's syndrome Cystine crystals in the urine (biochemically proven)
Date that the clinical label of Dent Disease None stated Dent Disease Dent & Lowe Dent Disease was first applied Dominant hypophosphatemia with nephrolithiasis Dominant or osteoporosis hypophosphatemia with Date that clinical diagnosis Tubulopathy None stated nephrolithiasis or was first made Genetically confirmed heterozygous pathogenic osteoporosis variant in SLC34A1, SLC9A3R1, SLC34A3 Drug induced Fanconi Date that clinical diagnosis Tubulopathy Drug induced Fanconi syndrome None stated syndrome was first made Drug induced Date that clinical diagnosis Tubulopathy Drug induced hypomagnesemia None stated hypomagnesemia was first made
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis
Drug induced Nephrogenic Date that clinical diagnosis Tubulopathy Drug induced Nephrogenic Diabetes Insipidus None stated Diabetes Insipidus was first made EAST syndrome (Epilepsy, Gitelman/Bartter-type syndrome in childhood with Date that clinical diagnosis Normal CNS examination Ataxia, Sensorineural Tubulopathy epilepsy /ataxia was first made deafness, Tubulopathy)
Date that genetic diagnosis was made and/or, for males, Confirmed diagnosis of Fabry Disease None stated Fabry Disease Fabry the date that low alpha gal levels were first recorded
Familial Hypomagnesaemia Familial Hypomagnesaemia with Hypercalciuria and Nephrocalcinosis with hypercalciuria and Date that clinical diagnosis None stated Tubulopathy was first made nephrocalcinosis Genetically confirmed homozygous pathogenic CLDN16/19 variant in CLDN 16/19 Familial primary hypomagnesemia with Familial primary hypocalciuria Date that clinical diagnosis hypomagnesemia with Tubulopathy Genetically confirmed homozygous pathogenic None stated was first made hypocalcuria FXYD2 variant in FXYD2
Familial primary hypomagnesemia with Familial primary normocalcuria Date that clinical diagnosis None stated hypomagnesemia with Tubulopathy was first made normocalcuria EGF Genetically confirmed homozygous pathogenic variant in EGF Familial renal glucosuria Familial renal glucosuria Date that clinical diagnosis Tubulopathy None stated SLC5A2 Genetically confirmed homozygous pathogenic was first made variant in SLC5A2
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis Fanconi Renotubular Date that clinical diagnosis Tubulopathy Fanconi Renotubular syndrome 1 None stated syndrome 1 (FRTS1) was first made Fanconi Renotubular syndrome 2 Fanconi Renotubular Date that clinical diagnosis Tubulopathy None stated syndrome 2 (FRTS2) Genetically confirmed homozygous pathogenic was first made variant in SLC34A1 Fanconi Renotubular syndrome 3 Fanconi Renotubular Date that clinical diagnosis Tubulopathy None stated syndrome 3 (FRTS3) Genetically confirmed homozygous pathogenic was first made variant in EHHADH
Diagnosis of FMD established on radiological or Date that FMD was Fibromuscular histological grounds Fibromuscular Dysplasia None stated diagnosed by radiological (or Dysplasia histological) methods FMD of any arterial bed
Generalized pseudohypoaldosteronism type 1 Generalized Date that clinical diagnosis pseudohypoaldosteronism Tubulopathy None stated Genetically confirmed homozygous pathogenic was first made type 1 variant in SCNN1A/ SCNN1B/SCNN1G
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis
Diarrhoea-negative HUS, includes congenital Shiga toxin associated HUS and familial HUS Secondary causes: Renal biopsy showing a TMA and/or the triad of Drugs microangiopathic haemolytic anaemia, Infection (HIV, pneumonia, thrombocytopenia, renal failure. streptococcus) Haemolytic Uraemic Transplantation (bone Syndrome - Atypical aHUS marrow, liver, lung, cardiac Date of first presentation but not de-novo renal) Cobalamin deficiency SLE APL Ab syndrome Scleroderma ADAMTS13 antibodies or deficiency
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis
Acute kidney injury (AKI) with elevated creatinine for age and/or oligoanuria (urine output <0.5ml/kg/hr over 24hr period) with either:
Microangiopathic haemolytic anaemia (MAHA) - defined as Hgb < 10mg/dl with fragmented RBCs
or Septicaemia Thrombocytopaenia - defined as platelet count less than 130, 000 x 10 9/l Malignant hypertension
Haemolytic Uraemic Date on which the STEC- STEC-HUS Primary vascular disease Syndrome-Shiga toxin and HUS was suspected.
(Verocytotoxin)-associated Familial HUS not being part Occurring with Shiga-toxin producing E Coli of the same (STEC) infection defined as:
Positive STEC culture
Positive PCR for Stx gene directly from a faecal specimen
Positive antibodies to the lipopolysaccharide
antigen of E. coli serogroups O157, O26, O103, O111 and O145
Heavy metal induced Date that clinical diagnosis Tubulopathy Heavy metal induced Fanconi syndrome None stated Fanconi syndrome was first made
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis Hepatocyte nuclear factor-1B mutation Hepatocyte Nuclear Factor- 1B mutation HNF1b Renal cysts and diabetes (RCAD) None stated Date of genetic diagnosis
Inherited genetic diabetes type 2 (MODY 5). Hereditary renal hypouricemia Hereditary renal Tubulopathy None stated Date of genetic diagnosis hypouricemia Genetically confirmed homozygous pathogenic variant in SLC22A12, SLC2A9 Hereditary hypophosphatemic rickets with Hereditary hypercalciuria hypophosphatemic rickets Tubulopathy None stated Date of genetic diagnosis with hypercalciuria Genetically confirmed homozygous pathogenic variant in SLC34A3
Primary Hyperoxaluria Type1
Date that definitive Primary Hyperoxaluria Type 2 diagnosis by genetic
confirmation with gene Primary Hyperoxaluria Type 3 Secondary hyperoxaluria mutation was first made. associated with Hyperoxaluria (Primary Primary Hyperoxaluria awaiting genetic gastrointestinal disease Hyperoxaluria hyperoxaluria, Oxalosis) confirmation (Urine oxalate excretion ≥ 0.8 If in doubt use the earliest mmol/1.73 m2/24 hrs) Renal failure without date that PH was systemic oxalate deposits suspected or the date Primary Hyperoxaluria Unclassified when treatment was first introduced Primary Hyperoxaluria Unclassified but with systemic oxalate deposition
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD; previously known as FUAN) Hyperuricaemic Nephropathy Familial juvenile hyperuricaemic nephropathy (Primary/Familial Familial gouty nephropathy Hyperuricaemic Date that genetic ADTKD None stated nephropathy) Familial urate nephropathy confirmation was received
Medullary cystic kidney Familial interstitial nephropathy
disease Uromodulin-associated nephropathy
Medullary cystic kidney disease (type I or II)
All forms of secondary IgA Biopsy proven IgA Nephropathy plus proteinuria IgA nephropathy, including IgA Nephropathy >0.5g/ day or eGFR<60ml/min Date of renal biopsy Nephropathy Henoch Schonlein purpura
Isolated autosomal Isolated autosomal dominant hypomagnesemia dominant Date that clinical diagnosis Tubulopathy None stated hypomagnesemia, Genetically confirmed homozygous pathogenic was first made variant in KCNA1 Glaudemans type
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis
Liddle syndrome
Hypertension with hypokalaemia, suppressed aldosterone Date that clinical diagnosis Liddle syndrome Tubulopathy Hyperaldosteronism was first made Hypertension with suppressed aldosterone
Autosomal dominant hypertension, suppressed aldosterone
Date that the clinical label Dent & Lowe Lowe Syndrome None Stated Lowe Syndrome of Lowe Syndrome was first applied
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis
Child or adult with histological finding of: MPGN known to be Membranoproliferative MPGN Type I secondary to: glomerulonephritis
Dense Deposit Disease (morphological pattern Chronic bacterial infection Mesangiocapillary may or may not be MPGN) glomerulonephritis Hepatitis B or C infection Date of biopsy Other pattern of MPGN Dense Deposit Disease MPGN Malignancy C3 Glomerulonephritis (Characterised by C3 C3 Glomerulonephritis deposits in the absence of immunoglobulin with Systemic lupus electron dense deposits (morphological pattern erythematosus (by ACR C3 Glomerulopathy may or may not be MPGN) criteria)
Unclassified GN with capillary wall immune deposits
Membranous Membranous nephropathy confirmed by kidney Membranous Nephropathy Lupus nephritis Date of biopsy Nephropathy histology
Mitochondrial Renal Mitochondrial Disease or Mitochondrial Date that clinical diagnosis Mitochondrial None Stated Disease Cytopathy was first made
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Date of Diagnosis Diagnosis Cohort Inclusion Criteria Exclusion Criteria Renal biopsy proven confirmation of:
AH amyloidosis* AHL amyloidosis* AL amyloidosis* C3 glomerulonephritis with monoclonal gammopathy Crystalglobulinaemia Crystal-storing histiocytosis Fibrillary Glomerulonephritis Immunotactoid/Glomerulonephritis with Organised Microtubular Monoclonal Immunoglobulin Deposits (GOMMID) Intracapillary monoclonal IgM without cryoglobulin Intraglomerular/capillary lymphoma/leukaemia Light chain cast nephropathy Monoclonal Gammopathy Light chain proximal tubulopathy, crystalline MGRS None Stated Date of biopsy of Renal Significance Light chain proximal tubulopathy, non crystalline Monoclonal Immunoglobulin Deposition Disease (MIDD; includes Light Chain Deposition Disease - LCDD; Heavy Chair Deposition Disease - HCDD; and Light and Heavy Chain Deposition Disease - LHCDD) Proliferative glomerulonephritis with monoclonal immunoglobulin deposits – PGNMID Thrombotic Microangiopathy with monoclonal gammopathy Type 1 cryoglobulinaemic Glomerulonephritis Unclassified MGRS
*Patients with systemic amyloidosis may have a renal biopsy confirming AL amyloidosis or a biopsy of other tissue with confirmation of renal involvement by the UK National Amyloidosis Centre.
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis
Nephrogenic diabetes insipidus Nephrogenic diabetes Date that clinical diagnosis Tubulopathy None stated insipidus Genetically confirmed homozygous pathogenic variant was first made in AVPR2, AQP2
Nephrogenic syndrome of inappropriate antidiuresis Nephrogenic syndrome of Date that clinical diagnosis Tubulopathy None stated inappropriate antidiuresis Genetically confirmed homozygous pathogenic variant was first made in AVPR2
Histological or radiological features of Nephronophthisis Nephronophthisis None stated Date that histological ARPKD/NPHP /radiological or genetic Genetic diagnosis of Nephronophthisis or diagnosis was first made Nephronophthisis-related ciliopathy
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Diagnosis Cohort Inclusion Criteria Exclusion Criteria Date of Diagnosis
Children and adults with idiopathic Nephrotic Syndrome Secondary causes of (nephrotic range proteinuria and hypoalbuminaemia) Nephrotic Syndrome Congenital NS (presumed Steroid Resistance) Nephrotic Syndrome - Primary diagnosis of Steroid Sensitive or Steroid Childhood or adult onset with primary Steroid Glomerulonephritis Resistant Resistance (IgA Nephropathy, Membranoproliferative
(Congenital nephrotic Childhood or adult onset with late onset Steroid Glomerulonephritis, Date of presentation to syndrome, nephrotic syndr Resistance Membranous secondary or tertiary INS ome with focal segmental Nephropathy) centre glomerulosclerosis) Steroid Sensitive Nephrotic Syndrome (full or partial Vasculitis remission in response to steroids) Systemic Lupus Erythematosus Diabetes As part of a syndrome e.g. Nail Patella Syndrome and Obesity Denys-Drash Syndrome Hypertension
Those with a biopsy diagnosis of FSGS or minimal change disease can be included if they fall in the above categories but biopsy is not a prerequisite for inclusion Date that clinical diagnosis Oncogenic osteomalacia Tubulopathy Oncogenic osteomalacia None stated was first made Osteopetrosis with renal tubular acidosis Osteopetrosis with renal Date that clinical diagnosis Tubulopathy None stated tubular acidosis Genetically confirmed homozygous pathogenic variant was first made in CA2
Version 20, April 2020 RaDaR Inclusion and Exclusion Criteria
Date of Diagnosis Cohort Inclusion Criteria Exclusion Criteria Diagnosis
Clinical features of Autosomal Date that the Dominant Polycystic Kidney Disease clinical diagnosis meeting current image based diagnostic was first made. criteria Autosomal dominant polycystic liver disease This may be Polycystic Kidney Disease Clinical features compatible with ADPKD with no evidence of reported by the - Autosomal Dominant ADPKD in the absence of a family renal cysts clinician as the history date of the diagnostic scan or Pathogenic or likely pathogenic PKD1 by the patient if or PKD2 mutation with or without scans were clinical features performed at another centre
Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease Date that clinical - Autosomal Recessive ARPKD Congenital Hepatic Fibrosis None stated diagnosis was first made. Caroli Syndrome with kidney malformation or cyst
Version 19, October 2019 RaDaR Inclusion and Exclusion Criteria
Date of Diagnosis Cohort Inclusion Criteria Exclusion Criteria Diagnosis
Pregnancy in all women known to have CKD 1-5 prior to pregnancy or those with a serum creatinine >85umol/l on two occasions during pregnancy Pregnancy and Chronic Kidney Disease Pregnancy Pregnancy in all women with renal None stated Date of last transplants regardless of function menstrual period
Pregnancy in all women with previous or current lupus nephritis regardless of function
Primary hypomagnesemia with Primary hypomagnesemia secondary hypocalcemia Date that clinical with secondary Tubulopathy None stated diagnosis was first hypocalcemia Genetically confirmed homozygous made pathogenic variant in TRPM6 Date that clinical Pseudohypoaldosteronism Tubulopathy Pseudohypoaldosteronism type 2A None stated diagnosis was first type 2A made Pseudohypoaldosteronism type 2B Date that clinical Pseudohypoaldosteronism Tubulopathy None stated diagnosis was first type 2B Genetically confirmed homozygous made pathogenic variant in WNK1 Pseudohypoaldosteronism type 2C Date that clinical Pseudohypoaldosteronism Tubulopathy None stated diagnosis was first type 2C Genetically confirmed homozygous made pathogenic variant in WNK4 Pseudohypoaldosteronism type 2D Date that clinical Pseudohypoaldosteronism Tubulopathy None stated diagnosis was first type 2D Genetically confirmed homozygous made pathogenic variant in KLHL3
Version 19, October 2019 RaDaR Inclusion and Exclusion Criteria
Date of Diagnosis Cohort Inclusion Criteria Exclusion Criteria Diagnosis Pseudohypoaldosteronism type 2E Date that clinical Pseudohypoaldosteronism Tubulopathy None stated diagnosis was first type 2E Genetically confirmed homozygous made pathogenic variant in CUL3
Treatment with any injectable form of erythropoiesis stimulating agent for at least four weeks.
Haemoglobin <70 g/l without transfusion or transfusion dependence.
Pre-established PRCA Normal leucocyte and platelet count Pure Red Cell Aplasia due to myeloproliferative Date of positive PRCA disorder antibody test Reticulocyte count < 20.000 / mm3
Bone marrow aspirate showing well preserved myeloid and megakaryocyte development, and <5% erythroblasts.
Presence of anti-erythropoietin antibodies.
Renal pseudohypoaldosteronism type 1 Date that clinical Renal diagnosis was first pseudohypoaldosteronism Tubulopathy Genetically confirmed homozygous made type 1 pathogenic variant in NR3C2
Version 19, October 2019 RaDaR Inclusion and Exclusion Criteria
Cohort Date of Diagnosis Inclusion Criteria Exclusion Criteria Diagnosis Any radiologically confirmed retroperitoneal fibrosis (RPF), presumed to be 'idiopathic' or associated with primary conditions including (but not exclusively): Aortitis
Periaortitis
IgG4-related Vasculitis
Neoplastic disease Perivascular fibrosis Date of diagnostic within retroperitoneal Retroperitoneal Fibrosis Retroperitoneal Fibrosis imaging study fibrosis mass defined Atherosclerotic or aneurysmal disease report histologically
Note: There is no specific ICD code for retroperitoneal fibrosis although the diagnosis term links to two ICD codes:
ICD10:N13.5 - Crossing vessel and stricture of ureter without hydronephrosis
ICD-9-CM 593.4 - Other ureteric obstruction Clinical or molecular diagnosis of Tuberous Sclerosis Complex (TSC)
Multiple renal angiomyolipomas Tuberous Sclerosis Date that clinical Tuberous Sclerosis None stated diagnosis was Multiple renal angiomyolipomas (> 3) +/- first made pulmonary lymphangioleiomyomatosis (LAM) without other signs of TSC
Version 19, October 2019 RaDaR Inclusion and Exclusion Criteria
Date of Diagnosis Cohort Inclusion Criteria Exclusion Criteria Diagnosis Small vessel Vasculitis (ANCA associated)
Microscopic polyangiitis (including renal limited Vasculitis)
Granulomatosis with polyangiitis (Wegener)
Eosinophilic granulomatosis with polyangiitis (Churg Strauss)
ANCA Vasculitis unclassified
Small vessel Vasculitis (Immune Date of biopsy. complex) Vasculitis (Primary None stated systemic Vasculitis) Vasculitis anti-GBM disease In the absence of
a biopsy, the date Cryoglobulinemic Vasculitis of a positive antibody test IgA Vasculitis (Henoch-Schönlein) should be used
Medium vessel Vasculitis
Classical PAN
Kawasaki disease
Large vessel Vasculitis
Giant cell arteritis
Takayasu’s arteritis
Version 19, October 2019 RaDaR Inclusion and Exclusion Criteria
Date of Diagnosis Cohort Inclusion Criteria Exclusion Criteria Diagnosis Variable vessel Vasculitis
Behçet’s disease Date of biopsy. Cogan’s syndrome Vasculitis (Primary systemic Vasculitis) Vasculitis None stated In the absence of Single organ Vasculitis a biopsy, the date
of a positive Isolated aortitis antibody test
should be used Primary cerebral angiitis
Version 19, October 2019