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Familial steroid-resistant nephrotic syndrome with sensorineural deafness(COQ10D6)

MedGen UID:: 766263
•Concept ID:: C3553349
•: Disease or Syndrome

Synonym:	Coenzyme Q10 deficiency, primary, 6
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	COQ6 (14q24.3)

Monarch Initiative:	MONDO:0013836
OMIM®:	614650
Orphanet:	ORPHA280406

Definition

Primary coenzyme Q10 deficiency-6 is an autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis (FSGS). Some patients may show a favorable response to oral coenzyme Q supplementation (summary by Heeringa et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278) and NPHS1 (256300). [from OMIM]

Clinical features

From HPO

Focal segmental glomerulosclerosis

MedGen UID:: 4904
•Concept ID:: C0017668
•: Disease or Syndrome

Segmental accumulation of scar tissue in individual (but not all) glomeruli.

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Proteinuria

MedGen UID:: 10976
•Concept ID:: C0033687
•: Finding

Increased levels of protein in the urine.

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Diffuse mesangial sclerosis

MedGen UID:: 78698
•Concept ID:: C0268747
•: Disease or Syndrome

Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.

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Nephrolithiasis

MedGen UID:: 98227
•Concept ID:: C0392525
•: Disease or Syndrome

The presence of calculi (stones) in the kidneys.

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Steroid-resistant nephrotic syndrome

MedGen UID:: 588369
•Concept ID:: C0403397
•: Disease or Syndrome

A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication.

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Stage 5 chronic kidney disease

MedGen UID:: 384526
•Concept ID:: C2316810
•: Disease or Syndrome

A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.

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Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

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Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Abnormality of the genitourinary system
Abnormality of the nervous system
- Seizure
Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial steroid-resistant nephrotic syndrome with sensorineural deafness

Pathological process
- Disease
  - Non-Neoplastic Disorder
    - Non-Neoplastic Disorder by Special Category
      - Rare Non-Neoplastic Disorder
        Coenzyme Q10 deficiency
        Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Follow this link to review classifications for Familial steroid-resistant nephrotic syndrome with sensorineural deafness in Orphanet.

Professional guidelines

PubMed

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.

Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium, Schaefer F
Kidney Int 2022 Sep;102(3):592-603. Epub 2022 Apr 26 doi: 10.1016/j.kint.2022.02.040. PMID: 35483523

See all (1)

Recent clinical studies

Etiology

Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants.

Nam DW, Park SS, Lee SM, Suh MW, Park MK, Song JJ, Choi BY, Lee JH, Oh SH, Moon KC, Ahn YH, Kang HG, Cheong HI, Kim JH, Lee SY
Biomed Res Int 2022;2022:5250254. Epub 2022 Sep 9 doi: 10.1155/2022/5250254. PMID: 36124066 Free PMC Article

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.

Yuruk Yildirim Z, Toksoy G, Uyguner O, Nayir A, Yavuz S, Altunoglu U, Turkkan ON, Sevinc B, Gokcay G, Kurkcu Gunes D, Kiyak A, Yilmaz A
Eur J Med Genet 2020 Jan;63(1):103621. Epub 2019 Jan 22 doi: 10.1016/j.ejmg.2019.01.011. PMID: 30682496

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

Vivante A, Chacham OS, Shril S, Schreiber R, Mane SM, Pode-Shakked B, Soliman NA, Koneth I, Schiffer M, Anikster Y, Hildebrandt F
Pediatr Nephrol 2019 Sep;34(9):1607-1613. Epub 2019 Apr 17 doi: 10.1007/s00467-019-04256-0. PMID: 31001663 Free PMC Article

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N
Nephrol Dial Transplant 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. PMID: 27387476

Renal prognosis in women with hereditary nephritis.

Grünfeld JP, Noël LH, Hafez S, Droz D
Clin Nephrol 1985 Jun;23(6):267-71. PMID: 4028523

See all (5)

Diagnosis

A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.

Büyükyılmaz G, İnözü M, Çavdarlı B
Turk J Pediatr 2024 Oct 7;66(4):490-498. doi: 10.24953/turkjpediatr.2024.4702. PMID: 39387423

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.

Glomerular involvement in children with H syndrome.

David O, Geylis M, Kristal E, Ling G, Schreiber R
Pediatr Nephrol 2021 Mar;36(3):721-724. Epub 2021 Jan 2 doi: 10.1007/s00467-020-04860-5. PMID: 33387019

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N
Nephrol Dial Transplant 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. PMID: 27387476

See all (13)

Therapy

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

See all (1)

Prognosis

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N
Nephrol Dial Transplant 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. PMID: 27387476

Renal prognosis in women with hereditary nephritis.

Grünfeld JP, Noël LH, Hafez S, Droz D
Clin Nephrol 1985 Jun;23(6):267-71. PMID: 4028523

See all (2)

Clinical prediction guides

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N
Nephrol Dial Transplant 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. PMID: 27387476

A clinicopathological study of Alport syndrome and detection of type IV collagen chains in Alport patients.

Chen N, Pan X, Ren H, Dong D
Chin Med J (Engl) 1998 Sep;111(9):797-802. PMID: 11155669

Hereditary nephritis associated with low-tone sensorineural hearing difficulty: a case report.

Motoyama O, Ohshima M, Shigetomi Y, Ohara T, Nagai Y, Kawamura S, Iitaka K
Nihon Jinzo Gakkai Shi 1996 May;38(5):233-7. PMID: 8699614

Renal prognosis in women with hereditary nephritis.

Grünfeld JP, Noël LH, Hafez S, Droz D
Clin Nephrol 1985 Jun;23(6):267-71. PMID: 4028523

See all (5)